FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 24108

FusionGeneSummary for NF1_SLC46A1

check button Fusion gene summary
Fusion gene informationFusion gene name: NF1_SLC46A1
Fusion gene ID: 24108
HgeneTgene
Gene symbol

NF1

SLC46A1

Gene ID

4763

113235

Gene nameneurofibromin 1solute carrier family 46 member 1
SynonymsNFNS|VRNF|WSSG21|HCP1|PCFT
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1proton-coupled folate transporterheme carrier protein 1solute carrier family 46 (folate transporter), member 1
Modification date2018052720180519
UniProtAcc

P21359

Q96NT5

Ensembl transtripts involved in fusion geneENST00000356175, ENST00000358273, 
ENST00000431387, ENST00000581113, 
ENST00000417592, ENST00000444181, 
ENST00000321666, ENST00000440501, 
ENST00000584729, 
Fusion gene scores* DoF score35 X 18 X 19=119701 X 1 X 1=1
# samples 461
** MAII scorelog2(46/11970*10)=-4.70164548088649
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NF1 [Title/Abstract] AND SLC46A1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371

TgeneSLC46A1

GO:0015884

folic acid transport

17129779|17475902|19762432

TgeneSLC46A1

GO:0051958

methotrexate transport

19762432

TgeneSLC46A1

GO:1902600

proton transmembrane transport

17129779

TgeneSLC46A1

GO:1904447

folate import across plasma membrane

19762432


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUSCTCGA-22-5482-01ANF1chr17

29509683

+SLC46A1chr17

26733015

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000356175ENST00000321666NF1chr17

29509683

+SLC46A1chr17

26733015

-
In-frameENST00000356175ENST00000440501NF1chr17

29509683

+SLC46A1chr17

26733015

-
5CDS-5UTRENST00000356175ENST00000584729NF1chr17

29509683

+SLC46A1chr17

26733015

-
In-frameENST00000358273ENST00000321666NF1chr17

29509683

+SLC46A1chr17

26733015

-
In-frameENST00000358273ENST00000440501NF1chr17

29509683

+SLC46A1chr17

26733015

-
5CDS-5UTRENST00000358273ENST00000584729NF1chr17

29509683

+SLC46A1chr17

26733015

-
In-frameENST00000431387ENST00000321666NF1chr17

29509683

+SLC46A1chr17

26733015

-
In-frameENST00000431387ENST00000440501NF1chr17

29509683

+SLC46A1chr17

26733015

-
5CDS-5UTRENST00000431387ENST00000584729NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-3CDSENST00000581113ENST00000321666NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-3CDSENST00000581113ENST00000440501NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-5UTRENST00000581113ENST00000584729NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-3CDSENST00000417592ENST00000321666NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-3CDSENST00000417592ENST00000440501NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-5UTRENST00000417592ENST00000584729NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-3CDSENST00000444181ENST00000321666NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-3CDSENST00000444181ENST00000440501NF1chr17

29509683

+SLC46A1chr17

26733015

-
intron-5UTRENST00000444181ENST00000584729NF1chr17

29509683

+SLC46A1chr17

26733015

-

Top

FusionProtFeatures for NF1_SLC46A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF1

P21359

SLC46A1

Q96NT5

Stimulates the GTPase activity of Ras. NF1 shows greateraffinity for Ras GAP, but lower specific activity. May be aregulator of Ras activity. {ECO:0000269|PubMed:2121371,ECO:0000269|PubMed:8417346}. Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal hemetransporter which mediates heme uptake from the gut lumen intoduodenal epithelial cells. The iron is then released from heme andmay be transported into the bloodstream. Dietary heme iron is animportant nutritional source of iron. Shows a higher affinity forfolate than heme. {ECO:0000269|PubMed:17129779,ECO:0000269|PubMed:17156779, ECO:0000269|PubMed:17446347,ECO:0000269|PubMed:17475902}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06108_113-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06138_145-32460Topological domainExtracellular
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06169_180-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-061_24-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06204_212-32460Topological domainExtracellular
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06237_265-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06289_309-32460Topological domainExtracellular
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06329_331-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06357_359-32460Topological domainExtracellular
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06382_393-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06413_424-32460Topological domainExtracellular
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06450_459-32460Topological domainCytoplasmic
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-0649_84-32460Topological domainExtracellular
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06114_137-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06146_168-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06181_203-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06213_236-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-0625_48-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06266_288-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06310_328-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06332_356-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06360_381-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06394_412-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-06425_449-32460TransmembraneHelical
TgeneSLC46A1chr17:29509683chr17:26733015ENST00000440501-0685_107-32460TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNF1chr17:29509683chr17:26733015ENST00000356175+8571352_13552962819Compositional biasNote=Poly-Ser
HgeneNF1chr17:29509683chr17:26733015ENST00000358273+8581352_13552962840Compositional biasNote=Poly-Ser
HgeneNF1chr17:29509683chr17:26733015ENST00000431387+8151352_1355296594Compositional biasNote=Poly-Ser
HgeneNF1chr17:29509683chr17:26733015ENST00000356175+8571235_14512962819DomainRas-GAP
HgeneNF1chr17:29509683chr17:26733015ENST00000356175+8571580_17382962819DomainCRAL-TRIO
HgeneNF1chr17:29509683chr17:26733015ENST00000358273+8581235_14512962840DomainRas-GAP
HgeneNF1chr17:29509683chr17:26733015ENST00000358273+8581580_17382962840DomainCRAL-TRIO
HgeneNF1chr17:29509683chr17:26733015ENST00000431387+8151235_1451296594DomainRas-GAP
HgeneNF1chr17:29509683chr17:26733015ENST00000431387+8151580_1738296594DomainCRAL-TRIO
HgeneNF1chr17:29509683chr17:26733015ENST00000356175+8572555_25712962819MotifNote=Bipartite nuclear localization signal
HgeneNF1chr17:29509683chr17:26733015ENST00000358273+8582555_25712962840MotifNote=Bipartite nuclear localization signal
HgeneNF1chr17:29509683chr17:26733015ENST00000431387+8152555_2571296594MotifNote=Bipartite nuclear localization signal
HgeneNF1chr17:29509683chr17:26733015ENST00000356175+8571580_18372962819RegionNote=Lipid binding
HgeneNF1chr17:29509683chr17:26733015ENST00000358273+8581580_18372962840RegionNote=Lipid binding
HgeneNF1chr17:29509683chr17:26733015ENST00000431387+8151580_1837296594RegionNote=Lipid binding


Top

FusionGeneSequence for NF1_SLC46A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_NF1_ENST00000356175_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_296aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTL
EKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQ

>In-frame_NF1_ENST00000356175_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_296aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTL
EKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQ

>In-frame_NF1_ENST00000358273_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_296aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTL
EKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQ

>In-frame_NF1_ENST00000358273_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_296aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTL
EKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQ

>In-frame_NF1_ENST00000431387_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_296aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTL
EKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQ

>In-frame_NF1_ENST00000431387_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_296aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTL
EKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NF1_ENST00000356175_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_888nt
ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACA
CATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACT
ATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTG
GAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTT
CTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTC
AATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTA
CAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTA
GCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACT
GATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAA

>In-frame_NF1_ENST00000356175_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_888nt
ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACA
CATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACT
ATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTG
GAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTT
CTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTC
AATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTA
CAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTA
GCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACT
GATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAA

>In-frame_NF1_ENST00000358273_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_888nt
ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACA
CATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACT
ATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTG
GAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTT
CTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTC
AATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTA
CAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTA
GCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACT
GATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAA

>In-frame_NF1_ENST00000358273_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_888nt
ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACA
CATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACT
ATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTG
GAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTT
CTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTC
AATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTA
CAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTA
GCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACT
GATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAA

>In-frame_NF1_ENST00000431387_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_888nt
ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACA
CATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACT
ATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTG
GAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTT
CTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTC
AATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTA
CAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTA
GCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACT
GATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAA

>In-frame_NF1_ENST00000431387_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_888nt
ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACA
CATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACT
ATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTG
GAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTT
CTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTC
AATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTA
CAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTA
GCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACT
GATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_NF1_ENST00000356175_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_3037nt
AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT
GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC
TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC
CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC
CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAA
TAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTT
TGGTTATAAGCGGCCTCACTACTATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTC
AGTTGATTATATTGGATACACTGGAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGT
TGCTGCCAGAAATCTGCCATTTTCTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTAT
TTTCTCTCAGCTGCAACAACTTCAATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTG
ATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAG
CCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAA
AACTGTACCAGATCCCACAGACTGATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTA
AAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGTCCAGAAATAATCCAGGATATATCCAAAGACGTGGTTGATGAAAACA
ACATGAATAAGACAGCGCAAGCCCCACGCCACGCGTCGCTGGTCCCAGGCAGCGAGTCGCTCGCGCGCCCCGCCGCCCGCCTGGCGACAG
CTCCGCCGCGCACGCACATGGAGGGGAGCGCGAGCCCCCCGGAAAAGCCCCGCGCCCGCCCTGCGGCTGCCGTGCTGTGCCGGGGCCCGG
TAGAGCCGCTGGTCTTCCTGGCCAACTTTGCCTTGGTCCTGCAGGGCCCGCTCACCACGCAGTATCTGTGGCACCGCTTCAGCGCCGACC
TCGGCTACAATGGCACCCGCCAAAGGGGGGGCTGCAGCAACCGCAGCGCGGACCCCACCATGCAGGAAGTGGAGACCCTTACCTCCCACT
GGACCCTCTACATGAACGTGGGCGGCTTCCTGGTGGGGCTCTTCTCGTCCACCCTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCC
CGCTGCTAGTGCTGGCCTCGCTGGGCCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCG
TGCTGGGTCGCATCCTTTGTGCCCTCCTCGGCGACTTCGGTGGCCTTCTGGCTGCTAGCTTTGCGTCCGTGGCAGATGTCAGCTCCAGTC
GCAGCCGCACCTTCCGGATGGCCCTGCTGGAAGCCAGCATCGGGGTGGCTGGGATGCTGGCAAGCCTCCTCGGGGGCCACTGGCTCCGGG
CCCAGGGTTATGCCAACCCCTTCTGGCTGGCCTTGGCCTTGCTGATAGCCATGACTCTCTATGCAGCTTTCTGCTTTGGTGAGACCTTAA
AGGAGCCAAAGTCCACCCGGCTCTTCACGTTCCGTCACCACCGATCCATTGTCCAGCTCTATGTGGCTCCCGCCCCAGAGAAGTCCAGGA
AACATTTAGCCCTCTACTCACTGGCCATCTTCGTGGTGATCACTGTGCACTTTGGGGCCCAGGACATCTTAACCCTTTATGAACTAAGCA
CACCCCTCTGCTGGGACTCCAAACTAATCGGCTATGGTTCTGCAGCTCAGCATCTCCCCTACCTCACCAGCCTGCTGGCCCTGAAGCTCC
TGCAGTACTGCCTGGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTCAACATCCTGGGGATGGTGGTCTTTGCCTTTGCCACTATCA
CGCCTCTCATGTTCACAGGTGCTCTCTTTTCTGCTGTGGCCTGTGTGAATAGCCTGGCCATGCTGACGGCCTCCGGCTTCAACTCACTCT
ACCCAGCCACTCTGAACTTTATGAAGGGGTTCCCCTTCCTCCTGGGAGCTGGCCTCCTGCTCATCCCGGCTGTTCTGATTGGGCACACAT
TCTGGCAGTTCCGCCATGAGAACCCCCAGACCCGGGTTGGGGGCCCGCCCCCCGAGGGGCTGCCGGGCTTCAACAGCGGGGTGATGTTGC
TGAACCTGGAGGCCATGCGCCAGTCCCCGCTCTACAGCCGCCTGCTGGAGCCGGCGCAGGTGCAGCAGCTGGCCGACAAGTACCACTTCC
GCGGCCACCTCGGGGACCAGGACTTCTTCACCATGATCGGCATGGAGCACCCCAAGCTCTTCCATGTGCTGGACTGTACCTGGAACCGGC
AGCTGTGCACCTGGTGGAGGGACCATGGCTACAGTGACGTCTTCGAGGCCTATTTCAGGTGTGAGGGCCACGTCAAGATCTACCACGGGA

>In-frame_NF1_ENST00000356175_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_3124nt
AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT
GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC
TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC
CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC
CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAA
TAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTT
TGGTTATAAGCGGCCTCACTACTATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTC
AGTTGATTATATTGGATACACTGGAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGT
TGCTGCCAGAAATCTGCCATTTTCTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTAT
TTTCTCTCAGCTGCAACAACTTCAATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTG
ATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAG
CCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAA
AACTGTACCAGATCCCACAGACTGATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTA
AAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGTCCAGAAATAATCCAGGATATATCCAAAGACGTGGTTGATGAAAACA
ACATGAATAAGACAGCGCAAGCCCCACGCCACGCGTCGCTGGTCCCAGGCAGCGAGTCGCTCGCGCGCCCCGCCGCCCGCCTGGCGACAG
CTCCGCCGCGCACGCACATGGAGGGGAGCGCGAGCCCCCCGGAAAAGCCCCGCGCCCGCCCTGCGGCTGCCGTGCTGTGCCGGGGCCCGG
TAGAGCCGCTGGTCTTCCTGGCCAACTTTGCCTTGGTCCTGCAGGGCCCGCTCACCACGCAGTATCTGTGGCACCGCTTCAGCGCCGACC
TCGGCTACAATGGCACCCGCCAAAGGGGGGGCTGCAGCAACCGCAGCGCGGACCCCACCATGCAGGAAGTGGAGACCCTTACCTCCCACT
GGACCCTCTACATGAACGTGGGCGGCTTCCTGGTGGGGCTCTTCTCGTCCACCCTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCC
CGCTGCTAGTGCTGGCCTCGCTGGGCCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCG
TGCTGGGTCGCATCCTTTGTGCCCTCCTCGGCGACTTCGGTGGCCTTCTGGCTGCTAGCTTTGCGTCCGTGGCAGATGTCAGCTCCAGTC
GCAGCCGCACCTTCCGGATGGCCCTGCTGGAAGCCAGCATCGGGGTGGCTGGGATGCTGGCAAGCCTCCTCGGGGGCCACTGGCTCCGGG
CCCAGGGTTATGCCAACCCCTTCTGGCTGGCCTTGGCCTTGCTGATAGCCATGACTCTCTATGCAGCTTTCTGCTTTGGTGAGACCTTAA
AGGAGCCAAAGTCCACCCGGCTCTTCACGTTCCGTCACCACCGATCCATTGTCCAGCTCTATGTGGCTCCCGCCCCAGAGAAGTCCAGGA
AACATTTAGCCCTCTACTCACTGGCCATCTTCGTGGTGATCACTGTGCACTTTGGGGCCCAGGACATCTTAACCCTTTATGAACTAAGCA
CACCCCTCTGCTGGGACTCCAAACTAATCGGCTATGGTTCTGCAGCTCAGCATCTCCCCTACCTCACCAGCCTGCTGGCCCTGAAGCTCC
TGCAGTACTGCCTGGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTCAACATCCTGGGGATGGTGGTCTTTGCCTTTGCCACTATCA
CGCCTCTCATGTTCACAGGATATGGGTTGCTTTTCCTGTCATTAGTCATCACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAGAG
AGACAGAGCAGGGTGCTCTCTTTTCTGCTGTGGCCTGTGTGAATAGCCTGGCCATGCTGACGGCCTCCGGCATTTTCAACTCACTCTACC
CAGCCACTCTGAACTTTATGAAGGGGTTCCCCTTCCTCCTGGGAGCTGGCCTCCTGCTCATCCCGGCTGTTCTGATTGGGCACACATTCT
GGCAGTTCCGCCATGAGAACCCCCAGACCCGGGTTGGGGGCCCGCCCCCCGAGGGGCTGCCGGGCTTCAACAGCGGGGTGATGTTGCTGA
ACCTGGAGGCCATGCGCCAGTCCCCGCTCTACAGCCGCCTGCTGGAGCCGGCGCAGGTGCAGCAGCTGGCCGACAAGTACCACTTCCGCG
GCCACCTCGGGGACCAGGACTTCTTCACCATGATCGGCATGGAGCACCCCAAGCTCTTCCATGTGCTGGACTGTACCTGGAACCGGCAGC
TGTGCACCTGGTGGAGGGACCATGGCTACAGTGACGTCTTCGAGGCCTATTTCAGGTGTGAGGGCCACGTCAAGATCTACCACGGGAACT

>In-frame_NF1_ENST00000358273_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_3037nt
AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT
GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC
TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC
CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC
CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAA
TAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTT
TGGTTATAAGCGGCCTCACTACTATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTC
AGTTGATTATATTGGATACACTGGAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGT
TGCTGCCAGAAATCTGCCATTTTCTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTAT
TTTCTCTCAGCTGCAACAACTTCAATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTG
ATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAG
CCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAA
AACTGTACCAGATCCCACAGACTGATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTA
AAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGTCCAGAAATAATCCAGGATATATCCAAAGACGTGGTTGATGAAAACA
ACATGAATAAGACAGCGCAAGCCCCACGCCACGCGTCGCTGGTCCCAGGCAGCGAGTCGCTCGCGCGCCCCGCCGCCCGCCTGGCGACAG
CTCCGCCGCGCACGCACATGGAGGGGAGCGCGAGCCCCCCGGAAAAGCCCCGCGCCCGCCCTGCGGCTGCCGTGCTGTGCCGGGGCCCGG
TAGAGCCGCTGGTCTTCCTGGCCAACTTTGCCTTGGTCCTGCAGGGCCCGCTCACCACGCAGTATCTGTGGCACCGCTTCAGCGCCGACC
TCGGCTACAATGGCACCCGCCAAAGGGGGGGCTGCAGCAACCGCAGCGCGGACCCCACCATGCAGGAAGTGGAGACCCTTACCTCCCACT
GGACCCTCTACATGAACGTGGGCGGCTTCCTGGTGGGGCTCTTCTCGTCCACCCTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCC
CGCTGCTAGTGCTGGCCTCGCTGGGCCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCG
TGCTGGGTCGCATCCTTTGTGCCCTCCTCGGCGACTTCGGTGGCCTTCTGGCTGCTAGCTTTGCGTCCGTGGCAGATGTCAGCTCCAGTC
GCAGCCGCACCTTCCGGATGGCCCTGCTGGAAGCCAGCATCGGGGTGGCTGGGATGCTGGCAAGCCTCCTCGGGGGCCACTGGCTCCGGG
CCCAGGGTTATGCCAACCCCTTCTGGCTGGCCTTGGCCTTGCTGATAGCCATGACTCTCTATGCAGCTTTCTGCTTTGGTGAGACCTTAA
AGGAGCCAAAGTCCACCCGGCTCTTCACGTTCCGTCACCACCGATCCATTGTCCAGCTCTATGTGGCTCCCGCCCCAGAGAAGTCCAGGA
AACATTTAGCCCTCTACTCACTGGCCATCTTCGTGGTGATCACTGTGCACTTTGGGGCCCAGGACATCTTAACCCTTTATGAACTAAGCA
CACCCCTCTGCTGGGACTCCAAACTAATCGGCTATGGTTCTGCAGCTCAGCATCTCCCCTACCTCACCAGCCTGCTGGCCCTGAAGCTCC
TGCAGTACTGCCTGGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTCAACATCCTGGGGATGGTGGTCTTTGCCTTTGCCACTATCA
CGCCTCTCATGTTCACAGGTGCTCTCTTTTCTGCTGTGGCCTGTGTGAATAGCCTGGCCATGCTGACGGCCTCCGGCTTCAACTCACTCT
ACCCAGCCACTCTGAACTTTATGAAGGGGTTCCCCTTCCTCCTGGGAGCTGGCCTCCTGCTCATCCCGGCTGTTCTGATTGGGCACACAT
TCTGGCAGTTCCGCCATGAGAACCCCCAGACCCGGGTTGGGGGCCCGCCCCCCGAGGGGCTGCCGGGCTTCAACAGCGGGGTGATGTTGC
TGAACCTGGAGGCCATGCGCCAGTCCCCGCTCTACAGCCGCCTGCTGGAGCCGGCGCAGGTGCAGCAGCTGGCCGACAAGTACCACTTCC
GCGGCCACCTCGGGGACCAGGACTTCTTCACCATGATCGGCATGGAGCACCCCAAGCTCTTCCATGTGCTGGACTGTACCTGGAACCGGC
AGCTGTGCACCTGGTGGAGGGACCATGGCTACAGTGACGTCTTCGAGGCCTATTTCAGGTGTGAGGGCCACGTCAAGATCTACCACGGGA

>In-frame_NF1_ENST00000358273_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_3124nt
AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT
GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC
TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC
CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC
CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAA
TAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTT
TGGTTATAAGCGGCCTCACTACTATTTTAAAGAATGTTAACAATATGAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTC
AGTTGATTATATTGGATACACTGGAAAAATGTCTTGCTGGGCAACCAAAGGACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGT
TGCTGCCAGAAATCTGCCATTTTCTTCACACCTGTCGTGAAGGAAACCAGCATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTAT
TTTCTCTCAGCTGCAACAACTTCAATGCAGTCTTTAGTCGCATTTCTACCAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTG
ATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAG
CCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAA
AACTGTACCAGATCCCACAGACTGATATGGCTGAATGTGCAGAAAAGCTATTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTA
AAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGTCCAGAAATAATCCAGGATATATCCAAAGACGTGGTTGATGAAAACA
ACATGAATAAGACAGCGCAAGCCCCACGCCACGCGTCGCTGGTCCCAGGCAGCGAGTCGCTCGCGCGCCCCGCCGCCCGCCTGGCGACAG
CTCCGCCGCGCACGCACATGGAGGGGAGCGCGAGCCCCCCGGAAAAGCCCCGCGCCCGCCCTGCGGCTGCCGTGCTGTGCCGGGGCCCGG
TAGAGCCGCTGGTCTTCCTGGCCAACTTTGCCTTGGTCCTGCAGGGCCCGCTCACCACGCAGTATCTGTGGCACCGCTTCAGCGCCGACC
TCGGCTACAATGGCACCCGCCAAAGGGGGGGCTGCAGCAACCGCAGCGCGGACCCCACCATGCAGGAAGTGGAGACCCTTACCTCCCACT
GGACCCTCTACATGAACGTGGGCGGCTTCCTGGTGGGGCTCTTCTCGTCCACCCTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCC
CGCTGCTAGTGCTGGCCTCGCTGGGCCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCG
TGCTGGGTCGCATCCTTTGTGCCCTCCTCGGCGACTTCGGTGGCCTTCTGGCTGCTAGCTTTGCGTCCGTGGCAGATGTCAGCTCCAGTC
GCAGCCGCACCTTCCGGATGGCCCTGCTGGAAGCCAGCATCGGGGTGGCTGGGATGCTGGCAAGCCTCCTCGGGGGCCACTGGCTCCGGG
CCCAGGGTTATGCCAACCCCTTCTGGCTGGCCTTGGCCTTGCTGATAGCCATGACTCTCTATGCAGCTTTCTGCTTTGGTGAGACCTTAA
AGGAGCCAAAGTCCACCCGGCTCTTCACGTTCCGTCACCACCGATCCATTGTCCAGCTCTATGTGGCTCCCGCCCCAGAGAAGTCCAGGA
AACATTTAGCCCTCTACTCACTGGCCATCTTCGTGGTGATCACTGTGCACTTTGGGGCCCAGGACATCTTAACCCTTTATGAACTAAGCA
CACCCCTCTGCTGGGACTCCAAACTAATCGGCTATGGTTCTGCAGCTCAGCATCTCCCCTACCTCACCAGCCTGCTGGCCCTGAAGCTCC
TGCAGTACTGCCTGGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTCAACATCCTGGGGATGGTGGTCTTTGCCTTTGCCACTATCA
CGCCTCTCATGTTCACAGGATATGGGTTGCTTTTCCTGTCATTAGTCATCACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAGAG
AGACAGAGCAGGGTGCTCTCTTTTCTGCTGTGGCCTGTGTGAATAGCCTGGCCATGCTGACGGCCTCCGGCATTTTCAACTCACTCTACC
CAGCCACTCTGAACTTTATGAAGGGGTTCCCCTTCCTCCTGGGAGCTGGCCTCCTGCTCATCCCGGCTGTTCTGATTGGGCACACATTCT
GGCAGTTCCGCCATGAGAACCCCCAGACCCGGGTTGGGGGCCCGCCCCCCGAGGGGCTGCCGGGCTTCAACAGCGGGGTGATGTTGCTGA
ACCTGGAGGCCATGCGCCAGTCCCCGCTCTACAGCCGCCTGCTGGAGCCGGCGCAGGTGCAGCAGCTGGCCGACAAGTACCACTTCCGCG
GCCACCTCGGGGACCAGGACTTCTTCACCATGATCGGCATGGAGCACCCCAAGCTCTTCCATGTGCTGGACTGTACCTGGAACCGGCAGC
TGTGCACCTGGTGGAGGGACCATGGCTACAGTGACGTCTTCGAGGCCTATTTCAGGTGTGAGGGCCACGTCAAGATCTACCACGGGAACT

>In-frame_NF1_ENST00000431387_chr17_29509683_+_SLC46A1_ENST00000321666_chr17_26733015_-_2987nt
ACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCC
CCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCC
CCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCC
CTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGG
GTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAAC
AAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACTATTTTAAAGAATGTTAACAATATGAGA
ATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTGGAAAAATGTCTTGCTGGGCAACCAAAG
GACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTTCTTCACACCTGTCGTGAAGGAAACCAG
CATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTCAATGCAGTCTTTAGTCGCATTTCTACC
AGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAA
TTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGCA
TTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGAATGTGCAGAAAAGCTA
TTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGTCCAGAA
ATAATCCAGGATATATCCAAAGACGTGGTTGATGAAAACAACATGAATAAGACAGCGCAAGCCCCACGCCACGCGTCGCTGGTCCCAGGC
AGCGAGTCGCTCGCGCGCCCCGCCGCCCGCCTGGCGACAGCTCCGCCGCGCACGCACATGGAGGGGAGCGCGAGCCCCCCGGAAAAGCCC
CGCGCCCGCCCTGCGGCTGCCGTGCTGTGCCGGGGCCCGGTAGAGCCGCTGGTCTTCCTGGCCAACTTTGCCTTGGTCCTGCAGGGCCCG
CTCACCACGCAGTATCTGTGGCACCGCTTCAGCGCCGACCTCGGCTACAATGGCACCCGCCAAAGGGGGGGCTGCAGCAACCGCAGCGCG
GACCCCACCATGCAGGAAGTGGAGACCCTTACCTCCCACTGGACCCTCTACATGAACGTGGGCGGCTTCCTGGTGGGGCTCTTCTCGTCC
ACCCTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCCCGCTGCTAGTGCTGGCCTCGCTGGGCCTGCTGCTCCAGGCCCTAGTGTCC
GTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGCTGGGTCGCATCCTTTGTGCCCTCCTCGGCGACTTCGGTGGCCTTCTG
GCTGCTAGCTTTGCGTCCGTGGCAGATGTCAGCTCCAGTCGCAGCCGCACCTTCCGGATGGCCCTGCTGGAAGCCAGCATCGGGGTGGCT
GGGATGCTGGCAAGCCTCCTCGGGGGCCACTGGCTCCGGGCCCAGGGTTATGCCAACCCCTTCTGGCTGGCCTTGGCCTTGCTGATAGCC
ATGACTCTCTATGCAGCTTTCTGCTTTGGTGAGACCTTAAAGGAGCCAAAGTCCACCCGGCTCTTCACGTTCCGTCACCACCGATCCATT
GTCCAGCTCTATGTGGCTCCCGCCCCAGAGAAGTCCAGGAAACATTTAGCCCTCTACTCACTGGCCATCTTCGTGGTGATCACTGTGCAC
TTTGGGGCCCAGGACATCTTAACCCTTTATGAACTAAGCACACCCCTCTGCTGGGACTCCAAACTAATCGGCTATGGTTCTGCAGCTCAG
CATCTCCCCTACCTCACCAGCCTGCTGGCCCTGAAGCTCCTGCAGTACTGCCTGGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTC
AACATCCTGGGGATGGTGGTCTTTGCCTTTGCCACTATCACGCCTCTCATGTTCACAGGTGCTCTCTTTTCTGCTGTGGCCTGTGTGAAT
AGCCTGGCCATGCTGACGGCCTCCGGCTTCAACTCACTCTACCCAGCCACTCTGAACTTTATGAAGGGGTTCCCCTTCCTCCTGGGAGCT
GGCCTCCTGCTCATCCCGGCTGTTCTGATTGGGCACACATTCTGGCAGTTCCGCCATGAGAACCCCCAGACCCGGGTTGGGGGCCCGCCC
CCCGAGGGGCTGCCGGGCTTCAACAGCGGGGTGATGTTGCTGAACCTGGAGGCCATGCGCCAGTCCCCGCTCTACAGCCGCCTGCTGGAG
CCGGCGCAGGTGCAGCAGCTGGCCGACAAGTACCACTTCCGCGGCCACCTCGGGGACCAGGACTTCTTCACCATGATCGGCATGGAGCAC
CCCAAGCTCTTCCATGTGCTGGACTGTACCTGGAACCGGCAGCTGTGCACCTGGTGGAGGGACCATGGCTACAGTGACGTCTTCGAGGCC
TATTTCAGGTGTGAGGGCCACGTCAAGATCTACCACGGGAACTGCAACACTCCCATCCCGGAGGACTAGGCGCTCCCCGTGCCTTGCCCC

>In-frame_NF1_ENST00000431387_chr17_29509683_+_SLC46A1_ENST00000440501_chr17_26733015_-_3074nt
ACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCC
CCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCC
CCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCC
CTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGG
GTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGCTTCCAATAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAAC
AAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAAGCGGCCTCACTACTATTTTAAAGAATGTTAACAATATGAGA
ATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGATACACTGGAAAAATGTCTTGCTGGGCAACCAAAG
GACACAATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTTCTTCACACCTGTCGTGAAGGAAACCAG
CATGCAGCTGAACTTCGGAATTCTGCCTCTGGGGTTTTATTTTCTCTCAGCTGCAACAACTTCAATGCAGTCTTTAGTCGCATTTCTACC
AGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAA
TTAAAACGACTCCTGAAGGAAACAGCATTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGCA
TTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGAATGTGCAGAAAAGCTA
TTTGACTTGGTGGATGGTTTTGCTGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGTCCAGAA
ATAATCCAGGATATATCCAAAGACGTGGTTGATGAAAACAACATGAATAAGACAGCGCAAGCCCCACGCCACGCGTCGCTGGTCCCAGGC
AGCGAGTCGCTCGCGCGCCCCGCCGCCCGCCTGGCGACAGCTCCGCCGCGCACGCACATGGAGGGGAGCGCGAGCCCCCCGGAAAAGCCC
CGCGCCCGCCCTGCGGCTGCCGTGCTGTGCCGGGGCCCGGTAGAGCCGCTGGTCTTCCTGGCCAACTTTGCCTTGGTCCTGCAGGGCCCG
CTCACCACGCAGTATCTGTGGCACCGCTTCAGCGCCGACCTCGGCTACAATGGCACCCGCCAAAGGGGGGGCTGCAGCAACCGCAGCGCG
GACCCCACCATGCAGGAAGTGGAGACCCTTACCTCCCACTGGACCCTCTACATGAACGTGGGCGGCTTCCTGGTGGGGCTCTTCTCGTCC
ACCCTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCCCGCTGCTAGTGCTGGCCTCGCTGGGCCTGCTGCTCCAGGCCCTAGTGTCC
GTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGCTGGGTCGCATCCTTTGTGCCCTCCTCGGCGACTTCGGTGGCCTTCTG
GCTGCTAGCTTTGCGTCCGTGGCAGATGTCAGCTCCAGTCGCAGCCGCACCTTCCGGATGGCCCTGCTGGAAGCCAGCATCGGGGTGGCT
GGGATGCTGGCAAGCCTCCTCGGGGGCCACTGGCTCCGGGCCCAGGGTTATGCCAACCCCTTCTGGCTGGCCTTGGCCTTGCTGATAGCC
ATGACTCTCTATGCAGCTTTCTGCTTTGGTGAGACCTTAAAGGAGCCAAAGTCCACCCGGCTCTTCACGTTCCGTCACCACCGATCCATT
GTCCAGCTCTATGTGGCTCCCGCCCCAGAGAAGTCCAGGAAACATTTAGCCCTCTACTCACTGGCCATCTTCGTGGTGATCACTGTGCAC
TTTGGGGCCCAGGACATCTTAACCCTTTATGAACTAAGCACACCCCTCTGCTGGGACTCCAAACTAATCGGCTATGGTTCTGCAGCTCAG
CATCTCCCCTACCTCACCAGCCTGCTGGCCCTGAAGCTCCTGCAGTACTGCCTGGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTC
AACATCCTGGGGATGGTGGTCTTTGCCTTTGCCACTATCACGCCTCTCATGTTCACAGGATATGGGTTGCTTTTCCTGTCATTAGTCATC
ACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAGAGAGACAGAGCAGGGTGCTCTCTTTTCTGCTGTGGCCTGTGTGAATAGCCTG
GCCATGCTGACGGCCTCCGGCATTTTCAACTCACTCTACCCAGCCACTCTGAACTTTATGAAGGGGTTCCCCTTCCTCCTGGGAGCTGGC
CTCCTGCTCATCCCGGCTGTTCTGATTGGGCACACATTCTGGCAGTTCCGCCATGAGAACCCCCAGACCCGGGTTGGGGGCCCGCCCCCC
GAGGGGCTGCCGGGCTTCAACAGCGGGGTGATGTTGCTGAACCTGGAGGCCATGCGCCAGTCCCCGCTCTACAGCCGCCTGCTGGAGCCG
GCGCAGGTGCAGCAGCTGGCCGACAAGTACCACTTCCGCGGCCACCTCGGGGACCAGGACTTCTTCACCATGATCGGCATGGAGCACCCC
AAGCTCTTCCATGTGCTGGACTGTACCTGGAACCGGCAGCTGTGCACCTGGTGGAGGGACCATGGCTACAGTGACGTCTTCGAGGCCTAT
TTCAGGTGTGAGGGCCACGTCAAGATCTACCACGGGAACTGCAACACTCCCATCCCGGAGGACTAGGCGCTCCCCGTGCCTTGCCCCCGG


Top

FusionGenePPI for NF1_SLC46A1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NF1HRAS, SMARCA4, POLR2A, TIRAP, SIRT7, VCP, NSFL1C, CAV1, YWHAB, FAF2, NXF1, CCDC8, HLA-DPA1, EFNB2, CD274, TNFSF13B, CA14, SLAMF1, VSIG4, TGOLN2, HTR6, NOSIP, KRAS, CLK1, CDC5L, APP, YWHAH, PML, TRAF6, PTEN, SDC2, EGFR, CD79B, P4HA3, SCN3B, VSIG1, SIGLECL1, EPHA1, FAM174A, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, MAST3, DENND1A, SH3PXD2A, SRGAP2, DENND4C, PPM1H, EIF4E2, SIPA1L1, LIMA1, RALGPS2, MAGI1, CBY1, TESK2, CDC25C, DCLK1, GIGYF2, HDAC4, LPIN3, ZNF638, CAMSAP2, NADK, MAPKAP1, SRSF12, RASAL2, SYDE1, KIAA1804, TIAM1, AGAP1, CDC25B, CDK16, SH3RF3, PHLDB2, PLEKHA7, KIF1C, OSBPL6, FAM110B, USP21, NAV1, TANC2, PTPN13, FAM53C, ANKRD34A, STARD13, PTPN14, GAB2, DENND4A, INPP5E, TOP1, TOP2A, TOP3A, NRASSLC46A1SLC39A4, SLC22A9


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for NF1_SLC46A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for NF1_SLC46A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF1C0027831Neurofibromatosis 134CTD_human;ORPHANET;UNIPROT
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome5CTD_human;ORPHANET;UNIPROT
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia3CTD_human;HPO;ORPHANET
HgeneNF1C0004114Astrocytoma2CTD_human;HPO
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0162678Neurofibromatoses1CTD_human;HPO
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL1CTD_human;UNIPROT
HgeneNF1C3714756Intellectual Disability1CTD_human;HPO
TgeneSLC46A1C0342705Folate Malabsorption, Hereditary5CTD_human;ORPHANET;UNIPROT
TgeneSLC46A1C0024523Malabsorption Syndrome2CTD_human
TgeneSLC46A1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneSLC46A1C0002871Anemia1CTD_human
TgeneSLC46A1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSLC46A1C0030312Pancytopenia1CTD_human
TgeneSLC46A1C0598608Hyperhomocysteinemia1CTD_human