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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: 33948

FusionGeneSummary for SKAP1_HOXB9

check button Fusion gene summary
Fusion gene informationFusion gene name: SKAP1_HOXB9
Fusion gene ID: 33948
HgeneTgene
Gene symbol

SKAP1

HOXB9

Gene ID

8631

3219

Gene namesrc kinase associated phosphoprotein 1homeobox B9
SynonymsHEL-S-81p|SCAP1|SKAP55HOX-2.5|HOX2|HOX2E
Cytomap

17q21.32

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionsrc kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDahomeobox protein Hox-B9homeo box 2Ehomeo box B9homeobox protein Hox-2.5homeobox protein Hox-2E
Modification date2018052320180519
UniProtAcc

Q86WV1

P17482

Ensembl transtripts involved in fusion geneENST00000336915, ENST00000584924, 
ENST00000311177, ENST00000550387, 
Fusion gene scores* DoF score16 X 4 X 7=4483 X 3 X 3=27
# samples 163
** MAII scorelog2(16/448*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SKAP1 [Title/Abstract] AND HOXB9 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTranscription factor involved fusion gene, inframe and retained DNA-binding 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
HgeneSKAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11909961

TgeneHOXB9

GO:0060326

cell chemotaxis

19576624


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
TCGARVOVTCGA-VG-A8LO-01ASKAP1chr17

46423267

-HOXB9chr17

46700497

-
* 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-frameENST00000336915ENST00000311177SKAP1chr17

46423267

-HOXB9chr17

46700497

-
Frame-shiftENST00000336915ENST00000550387SKAP1chr17

46423267

-HOXB9chr17

46700497

-
In-frameENST00000584924ENST00000311177SKAP1chr17

46423267

-HOXB9chr17

46700497

-
Frame-shiftENST00000584924ENST00000550387SKAP1chr17

46423267

-HOXB9chr17

46700497

-

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FusionProtFeatures for SKAP1_HOXB9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SKAP1

Q86WV1

HOXB9

P17482

Positively regulates T-cell receptor signaling byenhancing the MAP kinase pathway. Required for optimal conjugationbetween T-cells and antigen-presenting cells by promoting theclustering of integrin ITGAL on the surface of T-cells. May beinvolved in high affinity immunoglobulin epsilon receptorsignaling in mast cells. {ECO:0000269|PubMed:10856234,ECO:0000269|PubMed:11909961, ECO:0000269|PubMed:12652296,ECO:0000269|PubMed:15939789, ECO:0000269|PubMed:16980616}. Sequence-specific transcription factor which is part ofa developmental regulatory system that provides cells withspecific positional identities on the anterior-posterior axis.

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
TgeneHOXB9chr17:46423267chr17:46700497ENST00000311177-02185_244172251DNA bindingHomeobox

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSKAP1chr17:46423267chr17:46700497ENST00000336915-413220_23093448Compositional biasNote=Poly-Glu
HgeneSKAP1chr17:46423267chr17:46700497ENST00000584924-412220_23093360Compositional biasNote=Poly-Glu
HgeneSKAP1chr17:46423267chr17:46700497ENST00000336915-413107_21093448DomainPH
HgeneSKAP1chr17:46423267chr17:46700497ENST00000336915-413294_35593448DomainSH3
HgeneSKAP1chr17:46423267chr17:46700497ENST00000584924-412107_21093360DomainPH
HgeneSKAP1chr17:46423267chr17:46700497ENST00000584924-412294_35593360DomainSH3


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FusionGeneSequence for SKAP1_HOXB9


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_SKAP1_ENST00000336915_chr17_46423267_-_HOXB9_ENST00000311177_chr17_46700497_-_172aa
MQAAALPEEIRWLLEDAEEFLAEGLRNENLSAVARDHRDHILRGFQQIKARYYWDFQPQGGDIGQDSSDDNHSGTLGLSLTSDAPFLSDY

>In-frame_SKAP1_ENST00000584924_chr17_46423267_-_HOXB9_ENST00000311177_chr17_46700497_-_172aa
MQAAALPEEIRWLLEDAEEFLAEGLRNENLSAVARDHRDHILRGFQQIKARYYWDFQPQGGDIGQDSSDDNHSGTLGLSLTSDAPFLSDY


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SKAP1_ENST00000336915_chr17_46423267_-_HOXB9_ENST00000311177_chr17_46700497_-_516nt
ATGCAGGCCGCCGCCCTCCCTGAGGAGATCCGTTGGCTCCTGGAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTC
AGCGCTGTTGCAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGG
GGAGACATTGGACAGGACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTAT
CAGGATGAGGCCAACCCCTCCGCCAACTGGCTGCACGCTCGCTCTTCCCGGAAAAAGCGCTGTCCCTACACCAAATACCAGACGCTGGAG
CTAGAGAAGGAGTTTCTGTTCAATATGTACCTCACCAGGGACCGTAGGCACGAAGTGGCCAGACTCCTCAATCTGAGTGAGAGACAAGTC

>In-frame_SKAP1_ENST00000584924_chr17_46423267_-_HOXB9_ENST00000311177_chr17_46700497_-_516nt
ATGCAGGCCGCCGCCCTCCCTGAGGAGATCCGTTGGCTCCTGGAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTC
AGCGCTGTTGCAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGG
GGAGACATTGGACAGGACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTAT
CAGGATGAGGCCAACCCCTCCGCCAACTGGCTGCACGCTCGCTCTTCCCGGAAAAAGCGCTGTCCCTACACCAAATACCAGACGCTGGAG
CTAGAGAAGGAGTTTCTGTTCAATATGTACCTCACCAGGGACCGTAGGCACGAAGTGGCCAGACTCCTCAATCTGAGTGAGAGACAAGTC


* Fusion transcript sequences (Full-length transcript).
>In-frame_SKAP1_ENST00000336915_chr17_46423267_-_HOXB9_ENST00000311177_chr17_46700497_-_2330nt
GTCGCCTTCCAGCCCGTCCGCCTCCCGACCAGGGCCCGCGCCCCGTCCCGCCTCTCTCCCGCCCAGCCAAATGCAGGCCGCCGCCCTCCC
TGAGGAGATCCGTTGGCTCCTGGAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTCAGCGCTGTTGCAAGGGATCA
CAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGGGGAGACATTGGACAGGACAG
CTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTATCAGGATGAGGCCAACCCCTC
CGCCAACTGGCTGCACGCTCGCTCTTCCCGGAAAAAGCGCTGTCCCTACACCAAATACCAGACGCTGGAGCTAGAGAAGGAGTTTCTGTT
CAATATGTACCTCACCAGGGACCGTAGGCACGAAGTGGCCAGACTCCTCAATCTGAGTGAGAGACAAGTCAAAATCTGGTTTCAGAACCG
GCGGATGAAAATGAAGAAAATGAATAAGGAGCAGGGCAAAGAGTAAAGATTAAAGATTACCCCCAGTCCTCCCTAGCTCTTCCCCATCTC
ACTCTTAGTTATGTGACGACTGCAAAGCCAGTGCTGTCTGGGATGTATTCAAGTGAATGGGGAAGGGAGTCTCTCTTCCAAGTCCTTTAT
CTGCACCTAGAACCTCCCTCCTTTCCTTTGCCCTTACCTGTCTCTCTCTTCTCTCTAGGTGTCAGGAGAAAGTTTTGTTGATTTAGAAGA
TAGAAATAGTTGGTTCCTAAGAATGTGATGGGCCACAAGGAAAGAGAGACCCCAGTCAAGCTCCTAGTATGCCCTGTAATTTTTCTGGGA
AGTCCTAGCCCCTCACTTCCAGCTTGCCTGTTTCTTCTCTACACCCACCCAAAAGTCACCCAGGGACACTCCAACTCTACACAGCTCAGC
AGACATCCACACACAGTAATGGGGTGAGCTCACAACCACCATTCAGTCAAGTGAGGTGACACTCCAGTTGCAGACCATCGCACACCAAAT
TTGGCAAAACAGCCCTCAGACTGTCAGGCAAGCCCGGGTTCTACCCCTAATGCAAATACCCACCAGGGAGATGTCTAGAGGCAGACTCCT
GAGTGAGGTGTTGCAGCCCAAAGGCTGCAGCATTGCCATACCATTCCCATGGAGTTGCCAACTATTCTCAGGCCAAGGGCCATGGGGAAG
ATGGAGCAAACCTAGCCCCCAAGCCGGTGGGCTAGAAAGTACAAGAAAAGGCAGCACGTGGTTTTATGAAGCTATCTTAGGTGGAGCTAC
TCCCCACCTCCCACCAACATATACATTTTGTTGCAGGAAATGTTTAATTCCGCATGATGTTTCCCTCTCCTTCCAACAAAAGAAGGTCAA
ACTGTGGGTCGTAGAGCCTTGACAATGTTGTCCTCCTGTTCATCTGTGCACCACTTGACAGACTGTAGCTTCTCTTGCTCTCGACCGGCC
CTGCATTCTTCCGCACCCTCCCTAGCTCTGAAATCAACTCTCTTCGGTCGTATCCACCTTGCACCCGCAAGTCAAGCCGCCCCTTGTAGA
AAAATCCCTCCACCTTCCGTTCCCCGCTAGGTCAACCCCACTGTAGACAGGAAAGCCAGGCCAGGAGAGTCCGAATGAGAATTTATTGTG
AATCGATTCCCAAGCTCCCTTCCGGGACAAGTGGTCTGGGACAGGGAGGAGCAACGGCCCCAGCGCGCAACGCTCTGCGCGTTCCTCCGA
ATCCCGTCGGCTTCTCGACCCACGCAGAGAAGCCCCGGGCTTGGCGGCTCTAGCCCCAGCGCCAAAGGAGACCCGCCCCAGGGCCGGGCT
TGGCCTCCTGCTTCATGGGCCTGGATGCAGATCTGCGTGGCTGGTGCGTGCGCGCGCTTCTGGGAAACAGTCCCGCGTGCAAAGGAAAGG
GGCAAAATGGCACCTAAGCATCAGATGGAAGCTTACTCTCTGCTTCCGTTCCTCCCCCTGCTCCCCTACTTCTCAGTCCCCTTCAATTTG
TAGACTCTTGCTCCTGCTTCTCCTGATCCTGCAAGGGGACATTCCAGTAGAAGTTTTTTGCTTTGTCGGTGGCTGTCGTGAAATTGTGCT
TGTGTTTCGTGATTTCTTTGGGGGTGATTGTCTCGCTTGTTTTCAGTTGTCGATTATATGGGAGGGTTCTGGGTGGGAGTGGGGAGGGCG

>In-frame_SKAP1_ENST00000584924_chr17_46423267_-_HOXB9_ENST00000311177_chr17_46700497_-_2359nt
GAGGTACAGGTGCCTCGCGGTGCAGCCGGGTCGCCTTCCAGCCCGTCCGCCTCCCGACCAGGGCCCGCGCCCCGTCCCGCCTCTCTCCCG
CCCAGCCAAATGCAGGCCGCCGCCCTCCCTGAGGAGATCCGTTGGCTCCTGGAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAAT
GAGAACCTCAGCGCTGTTGCAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAG
CCCCAAGGGGGAGACATTGGACAGGACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTG
TCAGATTATCAGGATGAGGCCAACCCCTCCGCCAACTGGCTGCACGCTCGCTCTTCCCGGAAAAAGCGCTGTCCCTACACCAAATACCAG
ACGCTGGAGCTAGAGAAGGAGTTTCTGTTCAATATGTACCTCACCAGGGACCGTAGGCACGAAGTGGCCAGACTCCTCAATCTGAGTGAG
AGACAAGTCAAAATCTGGTTTCAGAACCGGCGGATGAAAATGAAGAAAATGAATAAGGAGCAGGGCAAAGAGTAAAGATTAAAGATTACC
CCCAGTCCTCCCTAGCTCTTCCCCATCTCACTCTTAGTTATGTGACGACTGCAAAGCCAGTGCTGTCTGGGATGTATTCAAGTGAATGGG
GAAGGGAGTCTCTCTTCCAAGTCCTTTATCTGCACCTAGAACCTCCCTCCTTTCCTTTGCCCTTACCTGTCTCTCTCTTCTCTCTAGGTG
TCAGGAGAAAGTTTTGTTGATTTAGAAGATAGAAATAGTTGGTTCCTAAGAATGTGATGGGCCACAAGGAAAGAGAGACCCCAGTCAAGC
TCCTAGTATGCCCTGTAATTTTTCTGGGAAGTCCTAGCCCCTCACTTCCAGCTTGCCTGTTTCTTCTCTACACCCACCCAAAAGTCACCC
AGGGACACTCCAACTCTACACAGCTCAGCAGACATCCACACACAGTAATGGGGTGAGCTCACAACCACCATTCAGTCAAGTGAGGTGACA
CTCCAGTTGCAGACCATCGCACACCAAATTTGGCAAAACAGCCCTCAGACTGTCAGGCAAGCCCGGGTTCTACCCCTAATGCAAATACCC
ACCAGGGAGATGTCTAGAGGCAGACTCCTGAGTGAGGTGTTGCAGCCCAAAGGCTGCAGCATTGCCATACCATTCCCATGGAGTTGCCAA
CTATTCTCAGGCCAAGGGCCATGGGGAAGATGGAGCAAACCTAGCCCCCAAGCCGGTGGGCTAGAAAGTACAAGAAAAGGCAGCACGTGG
TTTTATGAAGCTATCTTAGGTGGAGCTACTCCCCACCTCCCACCAACATATACATTTTGTTGCAGGAAATGTTTAATTCCGCATGATGTT
TCCCTCTCCTTCCAACAAAAGAAGGTCAAACTGTGGGTCGTAGAGCCTTGACAATGTTGTCCTCCTGTTCATCTGTGCACCACTTGACAG
ACTGTAGCTTCTCTTGCTCTCGACCGGCCCTGCATTCTTCCGCACCCTCCCTAGCTCTGAAATCAACTCTCTTCGGTCGTATCCACCTTG
CACCCGCAAGTCAAGCCGCCCCTTGTAGAAAAATCCCTCCACCTTCCGTTCCCCGCTAGGTCAACCCCACTGTAGACAGGAAAGCCAGGC
CAGGAGAGTCCGAATGAGAATTTATTGTGAATCGATTCCCAAGCTCCCTTCCGGGACAAGTGGTCTGGGACAGGGAGGAGCAACGGCCCC
AGCGCGCAACGCTCTGCGCGTTCCTCCGAATCCCGTCGGCTTCTCGACCCACGCAGAGAAGCCCCGGGCTTGGCGGCTCTAGCCCCAGCG
CCAAAGGAGACCCGCCCCAGGGCCGGGCTTGGCCTCCTGCTTCATGGGCCTGGATGCAGATCTGCGTGGCTGGTGCGTGCGCGCGCTTCT
GGGAAACAGTCCCGCGTGCAAAGGAAAGGGGCAAAATGGCACCTAAGCATCAGATGGAAGCTTACTCTCTGCTTCCGTTCCTCCCCCTGC
TCCCCTACTTCTCAGTCCCCTTCAATTTGTAGACTCTTGCTCCTGCTTCTCCTGATCCTGCAAGGGGACATTCCAGTAGAAGTTTTTTGC
TTTGTCGGTGGCTGTCGTGAAATTGTGCTTGTGTTTCGTGATTTCTTTGGGGGTGATTGTCTCGCTTGTTTTCAGTTGTCGATTATATGG
GAGGGTTCTGGGTGGGAGTGGGGAGGGCGAGGGGCCTAGAGCTCTAATTGTTTGTTTTGGAAGAAAAAAAGAAAAAGAACAAAAAATATA


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FusionGenePPI for SKAP1_HOXB9


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
SKAP1PTPRC, FYB, SRC, LYN, FYN, LCK, SKAP1, GRB2, APP, BLCAP, SH2D4A, PRAM1, FAM102A, AP3M1, MYO9B, MYO9A, POLR1B, LOC81691, EML3, WRN, ASPM, JPH1, POLR1A, POLR3A, RECQL4, HPS3, ZNF324, FAM208A, UXT, NCAPD3, MYCBP2, CUL2, PIP5K1A, NEK1, PLEKHH3, PHLDB3, PIK3C3, SEC63, SKAP2, GTF3C1, URI1, PIK3R2, PIK3R3, POLRMT, PLD2, UCKL1, PRR14L, KSR1, ZNHIT6, PDRG1, SETX, NEFL, ALMS1, APPBP2, DDX11L8, UTP15, SENP5, NCAPH2, PAX3, TBL2, ZNHIT2, ZNF644, SUGCT, PKN3, TTF2, PPHLN1, NPHP4, MTMR1, PKN2, C21orf2, POLA1, POLR3B, POLR2L, CCP110, SETD5, ELP3, DOCK7, USP54, POLR1E, TRMT44, POLR1D, EXPH5, NEK4, ATXN2, SBF1, GTPBP6, TRMT1, CD3EAP, PER1, SUPT6H, MCM8, RTEL1, TIGD5, PUSL1, KLHDC3, DYNLL2, MAP7D1HOXB9KRTAP4-12, MDFI, RBPMS, SAT1, BTG1, BTG2, SOX15, MYBBP1A, PHTF1, ING4, ZNF408, HOPX, SPZ1, CREBBP, ECT2, TAL1, GOLGA2, KRTAP5-9, TRIP6, PNMA1, CALCOCO2, MID2, KRTAP10-9, MAPK14, TCEAL1, HIST1H2BG, LZTS2, JUN, RBPJ, TEAD2, FOXA1, FOXC1, FOXC2, FOXD3, FOXE1, FOXF1, FOXK2, FOXS1, CYP2S1, ARIH1, AHCYL2, CKLF, VTN, WASF3, NAGK, NOLC1, KAT2B, SIRT1


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
HgeneSKAP1chr17:46423267chr17:46700497ENST00000336915-413290_29593448FYB1
HgeneSKAP1chr17:46423267chr17:46700497ENST00000584924-412290_29593360FYB1


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


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RelatedDrugs for SKAP1_HOXB9


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 SKAP1_HOXB9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSKAP1C0919267ovarian neoplasm1CTD_human