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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: 29060

FusionGeneSummary for PSAP_SIAE

check button Fusion gene summary
Fusion gene informationFusion gene name: PSAP_SIAE
Fusion gene ID: 29060
HgeneTgene
Gene symbol

PSAP

SIAE

Gene ID

729238

54414

Gene namesurfactant protein A2sialic acid acetylesterase
SynonymsCOLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAIIAIS6|CSE-C|CSEC|LSE|YSG2
Cytomap

10q22.3

11q24.2

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2Asialate O-acetylesteraseH-Lsecytosolic sialic acid 9-O-acetylesterase homologsialic acid-specific acetylesterase II
Modification date2018052320180519
UniProtAcc

P07602

Q9HAT2

Ensembl transtripts involved in fusion geneENST00000394936, ENST00000394934, 
ENST00000263593, ENST00000545756, 
ENST00000525730, 
Fusion gene scores* DoF score32 X 20 X 10=640032 X 5 X 12=1920
# samples 3736
** MAII scorelog2(37/6400*10)=-4.11247472925841
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(36/1920*10)=-2.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSAP [Title/Abstract] AND SIAE [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
TgeneSIAE

GO:0005975

carbohydrate metabolic process

23308225


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
TCGARVKIRCTCGA-B8-5164-01APSAPchr10

73576058

-SIAEchr11

124543777

-
* 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-frameENST00000394936ENST00000263593PSAPchr10

73576058

-SIAEchr11

124543777

-
5CDS-intronENST00000394936ENST00000545756PSAPchr10

73576058

-SIAEchr11

124543777

-
5CDS-intronENST00000394936ENST00000525730PSAPchr10

73576058

-SIAEchr11

124543777

-
In-frameENST00000394934ENST00000263593PSAPchr10

73576058

-SIAEchr11

124543777

-
5CDS-intronENST00000394934ENST00000545756PSAPchr10

73576058

-SIAEchr11

124543777

-
5CDS-intronENST00000394934ENST00000525730PSAPchr10

73576058

-SIAEchr11

124543777

-

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FusionProtFeatures for PSAP_SIAE


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

P07602

SIAE

Q9HAT2

Catalyzes the removal of O-acetyl ester groups fromposition 9 of the parent sialic acid, N-acetylneuraminic acid.

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
HgenePSAPchr10:73576058chr11:124543777ENST00000394936-141418_58906525DomainSaposin A-type 1
HgenePSAPchr10:73576058chr11:124543777ENST00000394936-1414194_275906525DomainSaposin B-type 2
HgenePSAPchr10:73576058chr11:124543777ENST00000394936-1414311_392906525DomainSaposin B-type 3
HgenePSAPchr10:73576058chr11:124543777ENST00000394936-1414405_486906525DomainSaposin B-type 4
HgenePSAPchr10:73576058chr11:124543777ENST00000394936-1414488_524906525DomainSaposin A-type 2
HgenePSAPchr10:73576058chr11:124543777ENST00000394936-141459_142906525DomainSaposin B-type 1

- 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 PSAP_SIAE


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_PSAP_ENST00000394936_chr10_73576058_-_SIAE_ENST00000263593_chr11_124543777_-_0aa

>In-frame_PSAP_ENST00000394934_chr10_73576058_-_SIAE_ENST00000263593_chr11_124543777_-_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PSAP_ENST00000394936_chr10_73576058_-_SIAE_ENST00000263593_chr11_124543777_-_0nt

>In-frame_PSAP_ENST00000394934_chr10_73576058_-_SIAE_ENST00000263593_chr11_124543777_-_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_PSAP_ENST00000394936_chr10_73576058_-_SIAE_ENST00000263593_chr11_124543777_-_8449nt
GCTGAGTCAGGGCGCTGTTGAGCTCGGGCAGGCCCGGATGGGGCGGGGTTAGCGCCTGCGCTCTGGACGGCTTTGGGGCAGGGCAGATTT
ATATCTGCGGGGGATCAGCTGACGCTCCGCATTGCAGACTGCGGAGTCAGACGGCGCTATGTACGCCCTCTTCCTCCTGGCCAGCCTCCT
GGGCGCGGCTCTAGCCGGCCCGGTCCTTGGACTGAAAGAATGCACCAGGGGCTCGGCAGTGTGGTGCCAGAATGTGAAGACGGCGTCCGA
CTGCGGGGCAGTGAAGCACTGCCTGCAGACCGTTTGGAACAAGCCAACAGTGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCAC
CGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGAGGAGATCCTTGTTTACTTGGAGAAGACCTGTGACTGGCTTCCGAAACCGAA
CATGTCTGCTTCATGCAAGGAGATAGTGGACTCCTACCTCCCTGTCATCCTGGACATCATTAAAGGAGAAATGAGCCGTCCTGGGGAGGT
GTGCTCTGCTCTCAACCTCTGCGAGTCTCTCCAGAAGCACCTAGCAGAGCTGAATCACCAGAAGCAGCTGGAGTCCAATAAGATCCCAGA
GCTGGACATGACTGAGGTGGTGGCCCCCTTCATGGCCAACATCCCTCTCCTCCTCTACCCTCAGGACGGCCCCCGCAGCAAGCCCCAGCC
AAAGGATAATGGGGACGTTTGCCAGGACTGCATTCAGATGGTGACTGACATCCAGACTGCTGTACGGACCAACTCCACCTTTGTCCAGGC
CTTGGTGGAACATGTCAAGGAGGAGTGTGACCGCCTGGGCCCTGGCATGGCCGACATATGCAAGAACTATATCAGCCAGTATTCTGAAAT
TGCTATCCAGATGATGATGCACATGCAACCCAAGGAGATCTGTGCGCTGGTTGGGTTCTGTGATGAGGTGAAAGAGATGCCCATGCAGAC
TCTGGTCCCCGCCAAAGTGGCCTCCAAGAATGTCATCCCTGCCCTGGAACTGGTGGAGCCCATTAAGAAGCACGAGGTCCCAGCAAAGTC
TGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGAAAGAAATACTCGACGC
TTTTGACAAAATGTGCTCGAAGCTGCCGAAGTCCCTGTCGGAAGAGTGCCAGGAGGTGGTGGACACGTACGGCAGCTCCATCCTGTCCAT
CCTGCTGGAGGAGGTCAGCCCTGAGCTGGTGTGCAGCATGCTGCACCTCTGCTCTGGCACGCGGCTGCCTGCACTGACCGTTCACGTGAC
TCAGCCAAAGGACGGTGGCTTCTGCGAAGTGTGCAAGAAGCTGGTGGGTTATTTGGATCGCAACCTGGAGAAAAACAGCACCAAGCAGGA
GATCCTGGCTGCTCTTGAGAAAGGCTGCAGCTTCCTGCCAGACCCTTACCAGAAGCAGTGTGATCAGTTTGTGGCAGAGTACGAGCCCGT
GCTGATCGAGATCCTGGTGGAGGTGATGGATCCTTCCTTCGTGTGCTTGAAAATTGGAGCCTGCCCCTCGGCCCATAAGCCCTTGTTGGG
AACTGAGAAGTGTATATGGGGCCCAAGCTACTGGTGCCAGAACACAGAGACAGCAGCCCAGTGCAATGCTGTCGAGCATTGCAAACGCCA
TGTGTGGAACTAGGAGGAGGAATATTCCATCTTGGCAGAAACCACAGCATTGGTTTTTTTCTACTTGTGTGTCTGGGGGAATGAACGCAC
AGATCTGTTTGACTTTGTTATAAAAATAGGGCTCCCCCACCTCCCCCATTTCTGTGTCCTTTATTGTAGCATTGCTGTCTGCAAGGGAGC
CCCTAGCCCCTGGCAGACATAGCTGCTTCAGTGCCCCTTTTCTCTCTGCTAGATGGATGTTGATGCACTGGAGGTCTTTTAGCCTGCCCT
TGCATGGCGCCTGCTGGAGGAGGAGAGAGCTCTGCTGGCATGAGCCACAGTTTCTTGACTGGAGGCCATCAACCCTCTTGGTTGAGGCCT
TGTTCTGAGCCCTGACATGTGCTTGGGCACTGGTGGGCCTGGGCTTCTGAGGTGGCCTCCTGCCCTGATCAGGGACCCTCCCCGCTTTCC
TGGGCCTCTCAGTTGAACAAAGCAGCAAAACAAAGGCAGTTTTATATGAAAGATTAGAAGCCTGGAATAATCAGGCTTTTTAAATGATGT
AATTCCCACTGTAATAGCATAGGGATTTTGGAAGCAGCTGCTGGTGGCTTGGGACATCAGTGGGGCCAAGGGTTCTCTGTCCCTGGTTCA
ACTGTGATTTGGCTTTCCCGTGTCTTTCCTGGTGATGCCTTGTTTGGGGTTCTGTGGGTTTGGGTGGGAAGAGGGCCATCTGCCTGAATG
TAACCTGCTAGCTCTCCGAAGGCCCTGCGGGCCTGGCTTGTGTGAGCGTGTGGACAGTGGTGGCCGCGCTGTGCCTGCTCGTGTTGCCTA
CATGTCCCTGGCTGTTGAGGCGCTGCTTCAGCCTGCACCCCTCCCTTGTCTCATAGATGCTCCTTTTGACCTTTTCAAATAAATATGGAT
GGCGAGCTCCTAGGCCTCTGGCTTCCTGGTAGAGGGCGGCATGCCGAAGGGTCTGCTGGGTGTGGATTGGATGCTGGGGTGTGGGGGTTG
GAAGCTGTCTGTGGCCCACTTGGGCACCCACGCTTCTGTCCACTTCTGGTTGCCAGGAGACAGCAAGCAAAGCCAGCAGGACATGAAGTT
GCTATTAAATGGACTTCGTGATTTTTGTTTTGCACTAAAGTTTCTGTGATTTAACAATAAAATTCTGTTAGCCAGAAAAAAAAAAAAAAA
ACTACGGCGGCCGAGAAGGGGCGAGTACAGCCCAGTCCTGAGGTCGCGGGAGGCTGCGAGGACTGCAAAAGGGTGGAGTCGGCCTCGCCC
CCGCCCAGGCCCCGCCCCTGCCGGGAACCCACTTTCCCAGTCCTAGGCGGCGGTCAGATCCTTGCAAGCATGGTCGCGCCGGGGCTTGTA
CTCGGGCTGGTGCTGCCATTAATCCTGTGGGCCGACAGAAGTGCAGGTATTGGTTTTCGCTTTGCTTCATACATCAATAATGATATGGTG
CTGCAGAAGGAGCCTGCTGGGGCAGTGATATGGGGCTTCGGTACACCTGGAGCCACAGTGACCGTGACCCTGCGCCAAGGTCAGGAAACC
ATCATGAAGAAAGTGACCAGTGTGAAAGCTCACTCTGATACGTGGATGGTGGTACTGGATCCTATGAAGCCTGGAGGACCTTTCGAAGTG
ATGGCACAACAGACTTTGGAGAAAATAAACTTCACCCTGAGAGTTCATGACGTCCTGTTTGGAGATGTCTGGCTCTGTAGTGGGCAGAGT
AACATGCAGATGACTGTGTTACAGATATTTAATGCTACAAGGGAGTTGTCTAACACTGCGGCATATCAGTCTGTCCGCATCCTCTCTGTC
TCTCCCATTCAAGCAGAGCAGGAGCTGGAGGACCTTGTTGCGGTTGACTTGCAGTGGTCTAAGCCCACCTCAGAAAACTTAGGCCATGGA
TATTTCAAGTACATGTCAGCAGTGTGCTGGCTCTTTGGACGTCACCTTTATGACACTCTGCAGTATCCCATCGGGCTGATCGCCTCCAGC
TGGGGCGGGACACCCATTGAAGCCTGGTCATCTGGACGGTCACTGAAAGCCTGTGGGGTCCCTAAACAAGGGTCCATTCCATACGATTCT
GTAACTGGTCCCAGTAAGCACTCTGTTCTCTGGAATGCCATGATCCATCCACTGTGCAATATGACTCTGAAAGGGGTAGTATGGTACCAG
GGGGAGTCCAATATAAATTATAACACGGATCTGTACAATTGCACATTCCCTGCACTCATCGAAGACTGGCGTGAAACCTTCCACCGTGGT
TCCCAGGGGCAGACGGAGCGTTTCTTCCCATTTGGACTTGTCCAGTTATCTTCAGATTTGTCTAAGAAGAGCTCAGACGATGGATTTCCC
CAGATCCGTTGGCATCAAACAGCAGACTTCGGCTATGTCCCCAACCCAAAGATGCCCAATACTTTCATGGCTGTAGCTATGGATCTCTGT
GATAGAGACTCGCCTTTTGGCAGCATCCACCCTCGAGATAAACAGACTGTGGCTTATCGGCTGCATTTGGGGGCCCGTGCTCTGGCTTAT
GGTGAGAAGAATTTGACCTTTGAAGGACCACTGCCTGAGAAGATAGAACTCTTGGCTCACAAGGGGCTGCTCAATCTCACATATTACCAG
CAAATCCAGGTGCAGAAAAAGGACAACAAGATATTTGAGATCTCCTGTTGCAGTGACCATCGATGCAAGTGGCTTCCAGCTTCTATGAAC
ACCGTCTCCACCCAGTCCCTGACCCTGGCGATCGATTCTTGTCATGGCACTGTGGTTGCTCTCCGCTATGCTTGGACCACGTGGCCTTGT
GAATATAAGCAGTGTCCCCTATACCACCCCAGTAGTGCCCTGCCAGCCCCTCCCTTCATTGCTTTCATTACAGACCAGGGTCCTGGACAT
CAGAGCAATGTTGCTAAATGACTGTTTCAGTATGATCAGAACTTAGATATAAGGATGGGTCCTTCAGATTTTAGCATTTAGGAGTTTCAA
TAATAACCATTGCTTTTAAAGGAAATTAATAGAAAGCCTCATTGAATGGCTTTCAGCTAGCACATGGCTGTTTCTATATTCTGATGAGCC
CAGGCTTATAGGTAACTTGAAATGCTTGCTTTTTGTTCCCTAGTTGGTCTAAGGGTCTGTATTGGACTAATTCTGAACTACAGACAAATT
GGACCTCAATGTCATTTACTTCCCTCATATTAATGGGAGTGAAATGTCTAATACTTTTGCCCCTTTTTATCCAGAGTTGTGGGAATCTCA
GGATTGGAAGAGATTTTAAAGGCCACATAGGCCAGCTAGTGTTCATGTGTTCTTTATAAAATTTCTCCCATCCAAGTACTAACCAGGCCC
GACCCTGCTTAGCTTCCGAGATCAGATGAGATCAGGCGCGTTCAGGGTGATATGGCCGTAGACGTCTTTACAAAATTCCTGACAGGTGGT
TACTGAATCTCTCTATGAACTTTCCATTCAAAACTTTCCAAGTTTTTCCTTATGTGGAACCGAAATCTTTCTTTCTCCCGTGAAACTTTA
CTACTATCAGATAATTGAAGACAGATCTCTTTGTATTCTCTTCAAGCCCAAACCAATTCTGTTCCTTCAATCTAAATAGTGGTAATATGA
ATGTTTAAGAAATGAAATAAGAAACATGTGCAGGCACTTTGGAAGGTGCTAAGTGACTGCCCTAAGGAATGAAAAGCAAGGGCCAGGTGG
GAGTAGCCCAGCGAAGGCACTTGGGCTGCCAGGAACAGGAGGCGTGGGAAACTCTGGCTTAGGAAAACATGAACACAGGGGCAACAGAGG
CAAACTGTTGTTCGAGTTAAATATAAATCTCAGGCTCTTTAAAGGTAAAAGGTTTAAGGATAATCCATTTGGAAGAAGAAAAGAGTGAGG
CTGAAAGTAAAGCCACATGACAAGCATATAAAAAAAAATGCAGATGATACAAATATGAAAGAGGCCTTCAGTGTTTGTTTATTAAGAATC
TTAATGCAGTTTACTGATGGATTAAAAACAGCTAACATTGTCTGAAAATTATGTTACCTATAAGAAGTTGGAAATAAATAAAAGCATAAT
CACTAGTGATGTGTATGTATTTATATCCACTTGCAAACTGTCCTTGAAGCATGTGAAAAGGAGTAAGAATACTATCTATGGGTAGCTTTC
CTCCCCTTAATGTGAAAAATGAGAACTAAAGCAAAAAGCATCACTCACTGTACATATACAATGTATTTTACGTAGTGTAAAAAATATGGT
TTAGATAGTGAATATATTAATGAAATCATATGTAAATTTATTTTTAGTGGCTGAATAATTTAAAACATTATGTGGAATTCACTATGTTTC
CCCCAATTTAGGAACTTTTTACTGTGTGAAAATGAAATTTATAATACTCTGTAGGGTGAATGATGGTTTTTGCTTTAGTTCTACCCCTCT
GTAGAGTTCCAAGGGGTTCTGGTGTAGCTCCAAACAGCAGGAATAACTTTGTCAGTGCCAAGATTTTATTTAGTTAAAAAACAAAAAATC
TACACACTTTACAAGGAACGTTGGCTCCCCTGAGGACTTCCTAGCATTCAACTCGTTCAGTTAACCCCTATTGCCCATGCTTTGACCTCT
CATGCATCTGGCCCCATAGAAACCATGAACCTTGTAACAGATTGATGCCTGAGAAAAAGTCAATCTACCCGTCCACTCCTCCACTCCCAA
TACACATACCCCCATGGGCTGTTCTAATTCGGGGGCAGCCAGAGGTAGCCAAGAACTCTAAGTCCAGATTCCTTTCACCTCCAGGAACCT
AGAGTACATAGTGTGAAAAATACGGTTCAGGCAATGATTATGTTAATGACGCCATGCACATTCATTTTTAGTGGCTGAGTAATTTAAAAC
ATGATGTGGGAATTCACTGCATTTCCCCAAATGTAAGAACTTTTTAGTTTTAAAATGAAATTTATAGTCACTGTAGAAAATTTGGACACT
AAAGTATAAGCAAGTAAAAATCACCCCCAAATTCATCATTCAGAGAAACACTATTTTGCTGAACCATTCACTTGACTTGAGTTATATAAT
TTTATACAGTACATATTATTTTGTAATCTGTGTTTTTGACTTACTTACTTTACCAAAATAATTTTCTTATGTAAATAATAGAATATAGAT
TTAGAGTGTTTCAGTTTGTGGAAGCCTCATTTTATTTAACCAATTTCCTATTAATGGACATATAGATTTTTAACAATTTTCTACTATTAA
AATAATACTGTAATGAATATCACATGCAAACATCATACCACACTCGTCCAGTTATTTCTTAGGGTTCTTAACATGGAAGAGGATAAATAT
ATATTTAAAATTTAGATATCTACAGCTTAACCCTCCCAAAGGATTAAACAACTTACATTCTCACCAAGGTAGTCCTTTTTTTGCCCTCAC
CCTCATTGACACTGGATGTTGTCAAATTTAAAAAAAATCCTTAACAATCTGATAGATGAAAAGATAGTTTAAGTATACTAAGGCAGTGTT
TTTCAAGGTGTTTTTGTTTTTGTTTTTGAGTTGGAGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAA
CCTCTGCCTCCCGGGTTCAAGCGATTCTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTT
TTTGTATTTTTATTAGAGACCGACTTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGG
ATTACAGGCGTGAGCCACCGTGCCCAGCTTTTCAAGTTTCTTAAATCCATGATCCATAGTAAAAACATTTTACACATATCTTCATACAAG
TATATGTATATGTGGTATACGTACACACTATAGTTGTATATGCATTATAGCTGAAAAACCAGTTCAACCTTTCTACATGTGGTATGTTCC
AAAAATTTTAAATGTCTTTCTAAAATGAGGCTCTTTTAATACGGGTATTACTCAGGCTGTAATAGTGGGAAAATATTTGTTATATGATAA
AAGCAGCATATATCATTTCTGTGTAAATGCCAGTATGCTCAAGCCATTTATGCAGAGAAAAAAAGAAAAACACTGCATTAACATTTTAAG
CAGTCCCCTTCCCGATTTGCTATTATACAAAGTTTGTTTCTTTTACATTGTAAAGTGTATACAACTTATAAAAAGACTATACTCAAAATC
ATAAAATACCAGTTAACTTAGCTTCTCAGTTTACAGTGGCCAGTGTGGTGTGCTCTAAACACTGCTGCCTGATCCCTCCCTCTGCTGGTC
AGATTTATTACTATAAAGTACCAATCCCATTTGTGTTGTCCTCAATTGGCAATTATGAATGGCAGTGCATTAACCATTCAATTCTCACCA
CTCCATCCCCATTCTTCTACTTCTGGGTCCTTTTGTCCCTCCCTTTCCAGACAGCCCTTGGTAACCTGCTGCTGGGTAACTAAGGCATCC
CACAGGTAGTGTTGAGGTGTTAGGTGATAGAGTAAACCTCTACCTTAATGCTATTAACAGGGTCCAAAAATCCAGTTGCATGGAACATGG
AGTTATATTATTACATGGCTAATGAAAAGACAGGACTAAGTCTGTTATAGAGTATGGGACTAACCCCCAATTATATGTGAATTTGTGTTA

>In-frame_PSAP_ENST00000394934_chr10_73576058_-_SIAE_ENST00000263593_chr11_124543777_-_8408nt
GGGGTTAGCGCCTGCGCTCTGGACGGCTTTGGGGCAGGGCAGATTTATATCTGCGGGGGATCAGCTGACGCTCCGCATTGCAGACTGCGG
AGTCAGACGGCGCTATGTACGCCCTCTTCCTCCTGGCCAGCCTCCTGGGCGCGGCTCTAGCCGGCCCGGTCCTTGGACTGAAAGAATGCA
CCAGGGGCTCGGCAGTGTGGTGCCAGAATGTGAAGACGGCGTCCGACTGCGGGGCAGTGAAGCACTGCCTGCAGACCGTTTGGAACAAGC
CAACAGTGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGAGGAGA
TCCTTGTTTACTTGGAGAAGACCTGTGACTGGCTTCCGAAACCGAACATGTCTGCTTCATGCAAGGAGATAGTGGACTCCTACCTCCCTG
TCATCCTGGACATCATTAAAGGAGAAATGAGCCGTCCTGGGGAGGTGTGCTCTGCTCTCAACCTCTGCGAGTCTCTCCAGAAGCACCTAG
CAGAGCTGAATCACCAGAAGCAGCTGGAGTCCAATAAGATCCCAGAGCTGGACATGACTGAGGTGGTGGCCCCCTTCATGGCCAACATCC
CTCTCCTCCTCTACCCTCAGGACGGCCCCCGCAGCAAGCCCCAGCCAAAGGATAATGGGGACGTTTGCCAGGACTGCATTCAGATGGTGA
CTGACATCCAGACTGCTGTACGGACCAACTCCACCTTTGTCCAGGCCTTGGTGGAACATGTCAAGGAGGAGTGTGACCGCCTGGGCCCTG
GCATGGCCGACATATGCAAGAACTATATCAGCCAGTATTCTGAAATTGCTATCCAGATGATGATGCACATGCTTCAGCAACCCAAGGAGA
TCTGTGCGCTGGTTGGGTTCTGTGATGAGGTGAAAGAGATGCCCATGCAGACTCTGGTCCCCGCCAAAGTGGCCTCCAAGAATGTCATCC
CTGCCCTGGAACTGGTGGAGCCCATTAAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGG
AGGTGACCAAGCTGATTGACAACAACAAGACTGAGAAAGAAATACTCGACGCTTTTGACAAAATGTGCTCGAAGCTGCCGAAGTCCCTGT
CGGAAGAGTGCCAGGAGGTGGTGGACACGTACGGCAGCTCCATCCTGTCCATCCTGCTGGAGGAGGTCAGCCCTGAGCTGGTGTGCAGCA
TGCTGCACCTCTGCTCTGGCACGCGGCTGCCTGCACTGACCGTTCACGTGACTCAGCCAAAGGACGGTGGCTTCTGCGAAGTGTGCAAGA
AGCTGGTGGGTTATTTGGATCGCAACCTGGAGAAAAACAGCACCAAGCAGGAGATCCTGGCTGCTCTTGAGAAAGGCTGCAGCTTCCTGC
CAGACCCTTACCAGAAGCAGTGTGATCAGTTTGTGGCAGAGTACGAGCCCGTGCTGATCGAGATCCTGGTGGAGGTGATGGATCCTTCCT
TCGTGTGCTTGAAAATTGGAGCCTGCCCCTCGGCCCATAAGCCCTTGTTGGGAACTGAGAAGTGTATATGGGGCCCAAGCTACTGGTGCC
AGAACACAGAGACAGCAGCCCAGTGCAATGCTGTCGAGCATTGCAAACGCCATGTGTGGAACTAGGAGGAGGAATATTCCATCTTGGCAG
AAACCACAGCATTGGTTTTTTTCTACTTGTGTGTCTGGGGGAATGAACGCACAGATCTGTTTGACTTTGTTATAAAAATAGGGCTCCCCC
ACCTCCCCCATTTCTGTGTCCTTTATTGTAGCATTGCTGTCTGCAAGGGAGCCCCTAGCCCCTGGCAGACATAGCTGCTTCAGTGCCCCT
TTTCTCTCTGCTAGATGGATGTTGATGCACTGGAGGTCTTTTAGCCTGCCCTTGCATGGCGCCTGCTGGAGGAGGAGAGAGCTCTGCTGG
CATGAGCCACAGTTTCTTGACTGGAGGCCATCAACCCTCTTGGTTGAGGCCTTGTTCTGAGCCCTGACATGTGCTTGGGCACTGGTGGGC
CTGGGCTTCTGAGGTGGCCTCCTGCCCTGATCAGGGACCCTCCCCGCTTTCCTGGGCCTCTCAGTTGAACAAAGCAGCAAAACAAAGGCA
GTTTTATATGAAAGATTAGAAGCCTGGAATAATCAGGCTTTTTAAATGATGTAATTCCCACTGTAATAGCATAGGGATTTTGGAAGCAGC
TGCTGGTGGCTTGGGACATCAGTGGGGCCAAGGGTTCTCTGTCCCTGGTTCAACTGTGATTTGGCTTTCCCGTGTCTTTCCTGGTGATGC
CTTGTTTGGGGTTCTGTGGGTTTGGGTGGGAAGAGGGCCATCTGCCTGAATGTAACCTGCTAGCTCTCCGAAGGCCCTGCGGGCCTGGCT
TGTGTGAGCGTGTGGACAGTGGTGGCCGCGCTGTGCCTGCTCGTGTTGCCTACATGTCCCTGGCTGTTGAGGCGCTGCTTCAGCCTGCAC
CCCTCCCTTGTCTCATAGATGCTCCTTTTGACCTTTTCAAATAAATATGGATGGCGAGCTCCTAGGCCTCTGGCTTCCTGGTAGAGGGCG
GCATGCCGAAGGGTCTGCTGGGTGTGGATTGGATGCTGGGGTGTGGGGGTTGGAAGCTGTCTGTGGCCCACTTGGGCACCCACGCTTCTG
TCCACTTCTGGTTGCCAGGAGACAGCAAGCAAAGCCAGCAGGACATGAAGTTGCTATTAAATGGACTTCGTGATTTTTGTTTTGCACTAA
AGTTTCTGTGATTTAACAATAAAATTCTGTTAGCCAAAAAAAAAAAAAAACTACGGCGGCCGAGAAGGGGCGAGTACAGCCCAGTCCTGA
GGTCGCGGGAGGCTGCGAGGACTGCAAAAGGGTGGAGTCGGCCTCGCCCCCGCCCAGGCCCCGCCCCTGCCGGGAACCCACTTTCCCAGT
CCTAGGCGGCGGTCAGATCCTTGCAAGCATGGTCGCGCCGGGGCTTGTACTCGGGCTGGTGCTGCCATTAATCCTGTGGGCCGACAGAAG
TGCAGGTATTGGTTTTCGCTTTGCTTCATACATCAATAATGATATGGTGCTGCAGAAGGAGCCTGCTGGGGCAGTGATATGGGGCTTCGG
TACACCTGGAGCCACAGTGACCGTGACCCTGCGCCAAGGTCAGGAAACCATCATGAAGAAAGTGACCAGTGTGAAAGCTCACTCTGATAC
GTGGATGGTGGTACTGGATCCTATGAAGCCTGGAGGACCTTTCGAAGTGATGGCACAACAGACTTTGGAGAAAATAAACTTCACCCTGAG
AGTTCATGACGTCCTGTTTGGAGATGTCTGGCTCTGTAGTGGGCAGAGTAACATGCAGATGACTGTGTTACAGATATTTAATGCTACAAG
GGAGTTGTCTAACACTGCGGCATATCAGTCTGTCCGCATCCTCTCTGTCTCTCCCATTCAAGCAGAGCAGGAGCTGGAGGACCTTGTTGC
GGTTGACTTGCAGTGGTCTAAGCCCACCTCAGAAAACTTAGGCCATGGATATTTCAAGTACATGTCAGCAGTGTGCTGGCTCTTTGGACG
TCACCTTTATGACACTCTGCAGTATCCCATCGGGCTGATCGCCTCCAGCTGGGGCGGGACACCCATTGAAGCCTGGTCATCTGGACGGTC
ACTGAAAGCCTGTGGGGTCCCTAAACAAGGGTCCATTCCATACGATTCTGTAACTGGTCCCAGTAAGCACTCTGTTCTCTGGAATGCCAT
GATCCATCCACTGTGCAATATGACTCTGAAAGGGGTAGTATGGTACCAGGGGGAGTCCAATATAAATTATAACACGGATCTGTACAATTG
CACATTCCCTGCACTCATCGAAGACTGGCGTGAAACCTTCCACCGTGGTTCCCAGGGGCAGACGGAGCGTTTCTTCCCATTTGGACTTGT
CCAGTTATCTTCAGATTTGTCTAAGAAGAGCTCAGACGATGGATTTCCCCAGATCCGTTGGCATCAAACAGCAGACTTCGGCTATGTCCC
CAACCCAAAGATGCCCAATACTTTCATGGCTGTAGCTATGGATCTCTGTGATAGAGACTCGCCTTTTGGCAGCATCCACCCTCGAGATAA
ACAGACTGTGGCTTATCGGCTGCATTTGGGGGCCCGTGCTCTGGCTTATGGTGAGAAGAATTTGACCTTTGAAGGACCACTGCCTGAGAA
GATAGAACTCTTGGCTCACAAGGGGCTGCTCAATCTCACATATTACCAGCAAATCCAGGTGCAGAAAAAGGACAACAAGATATTTGAGAT
CTCCTGTTGCAGTGACCATCGATGCAAGTGGCTTCCAGCTTCTATGAACACCGTCTCCACCCAGTCCCTGACCCTGGCGATCGATTCTTG
TCATGGCACTGTGGTTGCTCTCCGCTATGCTTGGACCACGTGGCCTTGTGAATATAAGCAGTGTCCCCTATACCACCCCAGTAGTGCCCT
GCCAGCCCCTCCCTTCATTGCTTTCATTACAGACCAGGGTCCTGGACATCAGAGCAATGTTGCTAAATGACTGTTTCAGTATGATCAGAA
CTTAGATATAAGGATGGGTCCTTCAGATTTTAGCATTTAGGAGTTTCAATAATAACCATTGCTTTTAAAGGAAATTAATAGAAAGCCTCA
TTGAATGGCTTTCAGCTAGCACATGGCTGTTTCTATATTCTGATGAGCCCAGGCTTATAGGTAACTTGAAATGCTTGCTTTTTGTTCCCT
AGTTGGTCTAAGGGTCTGTATTGGACTAATTCTGAACTACAGACAAATTGGACCTCAATGTCATTTACTTCCCTCATATTAATGGGAGTG
AAATGTCTAATACTTTTGCCCCTTTTTATCCAGAGTTGTGGGAATCTCAGGATTGGAAGAGATTTTAAAGGCCACATAGGCCAGCTAGTG
TTCATGTGTTCTTTATAAAATTTCTCCCATCCAAGTACTAACCAGGCCCGACCCTGCTTAGCTTCCGAGATCAGATGAGATCAGGCGCGT
TCAGGGTGATATGGCCGTAGACGTCTTTACAAAATTCCTGACAGGTGGTTACTGAATCTCTCTATGAACTTTCCATTCAAAACTTTCCAA
GTTTTTCCTTATGTGGAACCGAAATCTTTCTTTCTCCCGTGAAACTTTACTACTATCAGATAATTGAAGACAGATCTCTTTGTATTCTCT
TCAAGCCCAAACCAATTCTGTTCCTTCAATCTAAATAGTGGTAATATGAATGTTTAAGAAATGAAATAAGAAACATGTGCAGGCACTTTG
GAAGGTGCTAAGTGACTGCCCTAAGGAATGAAAAGCAAGGGCCAGGTGGGAGTAGCCCAGCGAAGGCACTTGGGCTGCCAGGAACAGGAG
GCGTGGGAAACTCTGGCTTAGGAAAACATGAACACAGGGGCAACAGAGGCAAACTGTTGTTCGAGTTAAATATAAATCTCAGGCTCTTTA
AAGGTAAAAGGTTTAAGGATAATCCATTTGGAAGAAGAAAAGAGTGAGGCTGAAAGTAAAGCCACATGACAAGCATATAAAAAAAAATGC
AGATGATACAAATATGAAAGAGGCCTTCAGTGTTTGTTTATTAAGAATCTTAATGCAGTTTACTGATGGATTAAAAACAGCTAACATTGT
CTGAAAATTATGTTACCTATAAGAAGTTGGAAATAAATAAAAGCATAATCACTAGTGATGTGTATGTATTTATATCCACTTGCAAACTGT
CCTTGAAGCATGTGAAAAGGAGTAAGAATACTATCTATGGGTAGCTTTCCTCCCCTTAATGTGAAAAATGAGAACTAAAGCAAAAAGCAT
CACTCACTGTACATATACAATGTATTTTACGTAGTGTAAAAAATATGGTTTAGATAGTGAATATATTAATGAAATCATATGTAAATTTAT
TTTTAGTGGCTGAATAATTTAAAACATTATGTGGAATTCACTATGTTTCCCCCAATTTAGGAACTTTTTACTGTGTGAAAATGAAATTTA
TAATACTCTGTAGGGTGAATGATGGTTTTTGCTTTAGTTCTACCCCTCTGTAGAGTTCCAAGGGGTTCTGGTGTAGCTCCAAACAGCAGG
AATAACTTTGTCAGTGCCAAGATTTTATTTAGTTAAAAAACAAAAAATCTACACACTTTACAAGGAACGTTGGCTCCCCTGAGGACTTCC
TAGCATTCAACTCGTTCAGTTAACCCCTATTGCCCATGCTTTGACCTCTCATGCATCTGGCCCCATAGAAACCATGAACCTTGTAACAGA
TTGATGCCTGAGAAAAAGTCAATCTACCCGTCCACTCCTCCACTCCCAATACACATACCCCCATGGGCTGTTCTAATTCGGGGGCAGCCA
GAGGTAGCCAAGAACTCTAAGTCCAGATTCCTTTCACCTCCAGGAACCTAGAGTACATAGTGTGAAAAATACGGTTCAGGCAATGATTAT
GTTAATGACGCCATGCACATTCATTTTTAGTGGCTGAGTAATTTAAAACATGATGTGGGAATTCACTGCATTTCCCCAAATGTAAGAACT
TTTTAGTTTTAAAATGAAATTTATAGTCACTGTAGAAAATTTGGACACTAAAGTATAAGCAAGTAAAAATCACCCCCAAATTCATCATTC
AGAGAAACACTATTTTGCTGAACCATTCACTTGACTTGAGTTATATAATTTTATACAGTACATATTATTTTGTAATCTGTGTTTTTGACT
TACTTACTTTACCAAAATAATTTTCTTATGTAAATAATAGAATATAGATTTAGAGTGTTTCAGTTTGTGGAAGCCTCATTTTATTTAACC
AATTTCCTATTAATGGACATATAGATTTTTAACAATTTTCTACTATTAAAATAATACTGTAATGAATATCACATGCAAACATCATACCAC
ACTCGTCCAGTTATTTCTTAGGGTTCTTAACATGGAAGAGGATAAATATATATTTAAAATTTAGATATCTACAGCTTAACCCTCCCAAAG
GATTAAACAACTTACATTCTCACCAAGGTAGTCCTTTTTTTGCCCTCACCCTCATTGACACTGGATGTTGTCAAATTTAAAAAAAATCCT
TAACAATCTGATAGATGAAAAGATAGTTTAAGTATACTAAGGCAGTGTTTTTCAAGGTGTTTTTGTTTTTGTTTTTGAGTTGGAGTTTTG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCCTGCCTCAGCC
TCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTATTAGAGACCGACTTAGCCAGGATGGTCTC
GATCTCCTGACCTCTTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCTTTTCAAGTTTCT
TAAATCCATGATCCATAGTAAAAACATTTTACACATATCTTCATACAAGTATATGTATATGTGGTATACGTACACACTATAGTTGTATAT
GCATTATAGCTGAAAAACCAGTTCAACCTTTCTACATGTGGTATGTTCCAAAAATTTTAAATGTCTTTCTAAAATGAGGCTCTTTTAATA
CGGGTATTACTCAGGCTGTAATAGTGGGAAAATATTTGTTATATGATAAAAGCAGCATATATCATTTCTGTGTAAATGCCAGTATGCTCA
AGCCATTTATGCAGAGAAAAAAAGAAAAACACTGCATTAACATTTTAAGCAGTCCCCTTCCCGATTTGCTATTATACAAAGTTTGTTTCT
TTTACATTGTAAAGTGTATACAACTTATAAAAAGACTATACTCAAAATCATAAAATACCAGTTAACTTAGCTTCTCAGTTTACAGTGGCC
AGTGTGGTGTGCTCTAAACACTGCTGCCTGATCCCTCCCTCTGCTGGTCAGATTTATTACTATAAAGTACCAATCCCATTTGTGTTGTCC
TCAATTGGCAATTATGAATGGCAGTGCATTAACCATTCAATTCTCACCACTCCATCCCCATTCTTCTACTTCTGGGTCCTTTTGTCCCTC
CCTTTCCAGACAGCCCTTGGTAACCTGCTGCTGGGTAACTAAGGCATCCCACAGGTAGTGTTGAGGTGTTAGGTGATAGAGTAAACCTCT
ACCTTAATGCTATTAACAGGGTCCAAAAATCCAGTTGCATGGAACATGGAGTTATATTATTACATGGCTAATGAAAAGACAGGACTAAGT
CTGTTATAGAGTATGGGACTAACCCCCAATTATATGTGAATTTGTGTTATCATATGGTTTCAGTGTACTGAGCTAAAAAGCACATTATCT


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FusionGenePPI for PSAP_SIAE


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
PSAPCELSR1, SGK223, MAFF, COPS6, CTSD, PSAP, UBE3A, ZBED1, USP4, TCERG1, SMARCC2, SAP18, PLAUR, SNAP23, NUP133, DNAJA1, SURF4, GDAP1, U2AF1, SNRPA1, SUMO2, SNCA, SRSF5, SSR1, THRAP3, BRCA1, SMAD9, SMAD2, CFTR, FBXO6, BAG3, BCAT1, C1QBP, GTF2F1, LAMB2, MVP, USP48, VPS29, VPS35, ERBB2, NLGN3, SOD1SIAEFBXO6, PTPRK, CPE, HLA-B, ENTPD6, NPTX1, CNTNAP3, MANEAL, OAF, TMEM30A, MR1, COCH, FAM162A, GPR98, GFPT2, MOXD1, LNPEP, PLXNB2, TCTN1, POC1A, NDST2, SGSH, TENM3, ERAP1, MANBA, ITGA8, TMEM2, LAMB2, FASTKD3, CHSY3, GDF11, DDX47, TMEM131, ARSK, ARSB, MBTPS1, COL18A1, MANEA, NAAA, RPP38, NRP2, PTGFRN, PLTP, KIAA1161, DCBLD2, SEPN1, GALNT7, TGFBR3, MAN2B2, TMEM132A, GALNS, NAGLU, CTSF, TRIM25


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 PSAP_SIAE


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 PSAP_SIAE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSAPC0268262Metachromatic Leukodystrophy due to Saposin B Deficiency5CTD_human;UNIPROT
HgenePSAPC1864651GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY2CTD_human;ORPHANET;UNIPROT
TgeneSIAEC3150797AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 61UNIPROT