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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30398

FusionGeneSummary for RAP1GAP_NSDHL

check button Fusion gene summary
Fusion gene informationFusion gene name: RAP1GAP_NSDHL
Fusion gene ID: 30398
HgeneTgene
Gene symbol

RAP1GAP

NSDHL

Gene ID

5909

50814

Gene nameRAP1 GTPase activating proteinNAD(P) dependent steroid dehydrogenase-like
SynonymsRAP1GA1|RAP1GAP1|RAP1GAPII|RAPGAPH105E3|SDR31E1|XAP104
Cytomap

1p36.12

Xq28

Type of geneprotein-codingprotein-coding
Descriptionrap1 GTPase-activating protein 1sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingprotein H105e3short chain dehydrogenase/reductase family 31E, member 1
Modification date2018051920180523
UniProtAcc

P47736

Q15738

Ensembl transtripts involved in fusion geneENST00000374761, ENST00000290101, 
ENST00000374763, ENST00000374765, 
ENST00000542643, ENST00000374757, 
ENST00000440023, ENST00000370274, 
Fusion gene scores* DoF score6 X 5 X 5=1501 X 1 X 1=1
# samples 71
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RAP1GAP [Title/Abstract] AND NSDHL [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneRAP1GAP

GO:0043087

regulation of GTPase activity

18309292

HgeneRAP1GAP

GO:0043547

positive regulation of GTPase activity

15141215


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
TCGARVLGGTCGA-KT-A7W1-01ARAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
* 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
intron-3CDSENST00000374761ENST00000440023RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
intron-3CDSENST00000374761ENST00000370274RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
In-frameENST00000290101ENST00000440023RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
In-frameENST00000290101ENST00000370274RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
intron-3CDSENST00000374763ENST00000440023RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
intron-3CDSENST00000374763ENST00000370274RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
5UTR-3CDSENST00000374765ENST00000440023RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
5UTR-3CDSENST00000374765ENST00000370274RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
5UTR-3CDSENST00000542643ENST00000440023RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
5UTR-3CDSENST00000542643ENST00000370274RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
5UTR-3CDSENST00000374757ENST00000440023RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+
5UTR-3CDSENST00000374757ENST00000370274RAP1GAPchr1

21976254

-NSDHLchrX

152027314

+

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FusionProtFeatures for RAP1GAP_NSDHL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAP1GAP

P47736

NSDHL

Q15738

GTPase activator for the nuclear Ras-related regulatoryprotein RAP-1A (KREV-1), converting it to the putatively inactiveGDP-bound state. {ECO:0000269|PubMed:15141215}. Involved in the sequential removal of two C-4 methylgroups in post-squalene cholesterol biosynthesis.{ECO:0000269|PubMed:14506130}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for RAP1GAP_NSDHL


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_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000440023_chrX_152027314_+_311aa
MSGRKRSFTFGAYGGVDKSFTSRRSVWICTQL_KV_TQFSTVRHPHHPVTTRSSFIE_ITLAPRMSLKLAKRLGFRNSF_PAVPVSSLRA
SISRMELKTFPMP_NPLTTTQRLRSYRRGQFWAPTILRRIS_PQPSALMAFSAQGTRSWYPSSSRQPGTAR_SS_LEMGRTWWTSPLWRT
WSMDTSWRQSSSPETRHWVGRHFTSPMMSPSLSGHSCLAS_QASIMRPPSTTSPTGWPTTWPSCTPCW_W_SVLSSSCSPPSHPCGSHWL

>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000370274_chrX_152027314_+_311aa
MSGRKRSFTFGAYGGVDKSFTSRRSVWICTQL_KV_TQFSTVRHPHHPVTTRSSFIE_ITLAPRMSLKLAKRLGFRNSF_PAVPVSSLRA
SISRMELKTFPMP_NPLTTTQRLRSYRRGQFWAPTILRRIS_PQPSALMAFSAQGTRSWYPSSSRQPGTAR_SS_LEMGRTWWTSPLWRT
WSMDTSWRQSSSPETRHWVGRHFTSPMMSPSLSGHSCLAS_QASIMRPPSTTSPTGWPTTWPSCTPCW_W_SVLSSSCSPPSHPCGSHWL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000440023_chrX_152027314_+_935nt
ATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGATCTGTACC
CAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACA
TTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCG
TCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACTAAGATCTTACAGGAGAGGGCAG
TTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTAC
CCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACG
TGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGCATTTCACATCACCAATGATGAGCCCA
TCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCCTACTACC
TGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTG
GCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTATGGAGAGGACCG

>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000370274_chrX_152027314_+_935nt
ATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGATCTGTACC
CAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACA
TTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCG
TCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACTAAGATCTTACAGGAGAGGGCAG
TTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTAC
CCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACG
TGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGCATTTCACATCACCAATGATGAGCCCA
TCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCCTACTACC
TGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTG
GCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTATGGAGAGGACCG


* Fusion transcript sequences (Full-length transcript).
>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000440023_chrX_152027314_+_1215nt
GCGCGGGCCGGGCCGGGCGGCGGCGGCGGCACCATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCC
TTCACTTCTCGCCGGAGTGTGTGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTA
ACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTT
TAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACT
ACACAGAGACTAAGATCTTACAGGAGAGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATG
GCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGA
AGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTG
GGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCA
AGTACCACATCCCCTACTGGGTGGCCTACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGC
CCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCAC
TAGTGACCATGGATGATGCTATGGAGAGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGAGGGACACTGGAGGCTGGGCTCT
CTCGACACGTTGCTCAGCCAGTCACTCCTTCCCCTGTGGATTGATGAAATAACATCCTTTGAATGAGTTTGCTCTGAGCCTGTGACTCCT
TCTGCTAGGCAGAGAGCGCACCCTACTCTTTCCGTGACGATGAGGGCGGCAAAAACAGACATTTCTTCCTTCATGGAACTGGATTTGGAT

>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000370274_chrX_152027314_+_1581nt
GCGCGGGCCGGGCCGGGCGGCGGCGGCGGCACCATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCC
TTCACTTCTCGCCGGAGTGTGTGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTA
ACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTT
TAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACT
ACACAGAGACTAAGATCTTACAGGAGAGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATG
GCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGA
AGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTG
GGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCA
AGTACCACATCCCCTACTGGGTGGCCTACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGC
CCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCAC
TAGTGACCATGGATGATGCTATGGAGAGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGAGGGACACTGGAGGCTGGGCTCT
CTCGACACGTTGCTCAGCCAGTCACTCCTTCCCCTGTGGATTGATGAAATAACATCCTTTGAATGAGTTTGCTCTGAGCCTGTGACTCCT
TCTGCTAGGCAGAGAGCGCACCCTACTCTTTCCGTGACGATGAGGGCGGCAAAAACAGACATTTCTTCCTTCATGGAACTGGATTTGGAT
TTCTTGAAGCAGGCAGCTTCATATTATACCGATTTGTTCTCTGTCTTTTTGTGTCTCTCTGTTTACCCCCTCCCTTGCCCCCTCTTCTGG
TTTATACATTTCATTCCAGTGTCCTTGTACATAATCAAGGAAGCTGTAGGAAGCTACAACCCATTTGTTAGTTCTGATGGAGAACCATTT
CCATGCAGACCAATACTAGAGTGAAGCCTCTAGACTTTGTTCAAGATACTCTATCTTCAAAATATCCCAGAAGAAAAACAGAAGCTGTTA
ACACACAGGTGAGACTTTACATATACATTTCATACTGACAGTGAGCTTAGAGCAAAAGCTGAAAGCTGAAATGACTGTAATTCCTCCCCA


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FusionGenePPI for RAP1GAP_NSDHL


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
RAP1GAPMLLT4, MEX3B, PFN2, BRAF, RAP1A, GNAZ, DYNC1I1, MAPK6, MAP1LC3B, CSNK1G2, CNR1, BTRC, FBXW11, PLK1, EZH2, GNAI3, XPO1NSDHLFUS, MOV10, NXF1, TMEM30A, HLA-C, RARS2, CCNL2, HTR3C, CYP1A1, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, FOXB1, FOXG1, FOXI2, FOXL1, FOXL2, USP47, HCCS, COMT


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


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RelatedDrugs for RAP1GAP_NSDHL


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

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RelatedDiseases for RAP1GAP_NSDHL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAP1GAPC0025202melanoma2CTD_human
HgeneRAP1GAPC0023487Acute Promyelocytic Leukemia1CTD_human
HgeneRAP1GAPC0030297Pancreatic Neoplasm1CTD_human
HgeneRAP1GAPC0040136Thyroid Neoplasm1CTD_human
TgeneNSDHLC0265267Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects3CTD_human;ORPHANET;UNIPROT
TgeneNSDHLC1168401Squamous cell carcinoma of the head and neck1CTD_human