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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: 12521

FusionGeneSummary for FAM126A_STEAP1B

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM126A_STEAP1B
Fusion gene ID: 12521
HgeneTgene
Gene symbol

FAM126A

STEAP1B

Gene ID

84668

256227

Gene namefamily with sequence similarity 126 member ASTEAP family member 1B
SynonymsDRCTNNB1A|HCC|HLD5|HYCC1-
Cytomap

7p15.3

7p15.3

Type of geneprotein-codingprotein-coding
Descriptionhyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein ASTEAP family member 1BSTEAP family protein MGC87042
Modification date2018051920180523
UniProtAcc

Q9BYI3

Q6NZ63

Ensembl transtripts involved in fusion geneENST00000432176, ENST00000409923, 
ENST00000498833, ENST00000409763, 
ENST00000406890, ENST00000404369, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 42
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: FAM126A [Title/Abstract] AND STEAP1B [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
HgeneFAM126A

GO:0046854

phosphatidylinositol phosphorylation

26571211

HgeneFAM126A

GO:0072659

protein localization to plasma membrane

26571211


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
TCGALDSARCTCGA-3B-A9I3-01AFAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
* 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-frameENST00000432176ENST00000406890FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
5CDS-intronENST00000432176ENST00000404369FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
In-frameENST00000409923ENST00000406890FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
5CDS-intronENST00000409923ENST00000404369FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
intron-3CDSENST00000498833ENST00000406890FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
intron-intronENST00000498833ENST00000404369FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
intron-3CDSENST00000409763ENST00000406890FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-
intron-intronENST00000409763ENST00000404369FAM126Achr7

23015829

-STEAP1Bchr7

22459455

-

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FusionProtFeatures for FAM126A_STEAP1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM126A

Q9BYI3

STEAP1B

Q6NZ63


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
TgeneSTEAP1Bchr7:23015829chr7:22459455ENST00000406890-35100_120235246TransmembraneHelical
TgeneSTEAP1Bchr7:23015829chr7:22459455ENST00000406890-35145_165235246TransmembraneHelical
TgeneSTEAP1Bchr7:23015829chr7:22459455ENST00000406890-35199_219235246TransmembraneHelical
TgeneSTEAP1Bchr7:23015829chr7:22459455ENST00000406890-3552_72235246TransmembraneHelical


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FusionGeneSequence for FAM126A_STEAP1B


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_FAM126A_ENST00000432176_chr7_23015829_-_STEAP1B_ENST00000406890_chr7_22459455_-_219aa
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQLLQFTLQFLPELIWCYLAVS
ASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEV

>In-frame_FAM126A_ENST00000409923_chr7_23015829_-_STEAP1B_ENST00000406890_chr7_22459455_-_219aa
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQLLQFTLQFLPELIWCYLAVS
ASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FAM126A_ENST00000432176_chr7_23015829_-_STEAP1B_ENST00000406890_chr7_22459455_-_659nt
ATGTTTACTTCAGAGAAAGGGGTTGTGGAGGAATGGTTGTCAGAGTTTAAGACATTACCAGAAACATCTTTACCAAATTATGCCACAAAT
TTGAAAGACAAGAGTTCTTTAGTTTCATCTCTCTATAAAGTTATCCAGGAGCCACAAAGTGAGTTGCTAGAACCTGTCTGTCACCAGCTC
TTTGAATTCTATCGCAGTGGAGAGGAGCAGTTGCTTCAATTTACGCTGCAATTTCTCCCAGAACTAATTTGGTGCTACCTTGCAGTCTCA
GCCAGCAGAAATGTGCATAGCAGTGGATGCATTGAAGCTCTTCTTCTAGGGGTTTACAATTTGGAAATAGTTGACAAACAGGGACATACC
AAAGTATTGAGTTTTACGATTCCATCTTTATCCAAACCATCTGTATACCATGAACCTTCCAGCATTGGGTCCATGGCTCTGACTGAGAGT
GCACTATCCCAGCATGGTTTGTCAAAAGTGGTATACAGTGGACCTCATCCTCAAAGGGAGATGCTGACAGCACAGAATCGGTTTGAAGTG
TTGACATTCCTTTTGTTGTGTTACAATGCTGCCTTAACTTACATGCCCAGTGTTTCTCTTCAGTCACTGTGTCAAATTTGTTCAAGGTAC

>In-frame_FAM126A_ENST00000409923_chr7_23015829_-_STEAP1B_ENST00000406890_chr7_22459455_-_659nt
ATGTTTACTTCAGAGAAAGGGGTTGTGGAGGAATGGTTGTCAGAGTTTAAGACATTACCAGAAACATCTTTACCAAATTATGCCACAAAT
TTGAAAGACAAGAGTTCTTTAGTTTCATCTCTCTATAAAGTTATCCAGGAGCCACAAAGTGAGTTGCTAGAACCTGTCTGTCACCAGCTC
TTTGAATTCTATCGCAGTGGAGAGGAGCAGTTGCTTCAATTTACGCTGCAATTTCTCCCAGAACTAATTTGGTGCTACCTTGCAGTCTCA
GCCAGCAGAAATGTGCATAGCAGTGGATGCATTGAAGCTCTTCTTCTAGGGGTTTACAATTTGGAAATAGTTGACAAACAGGGACATACC
AAAGTATTGAGTTTTACGATTCCATCTTTATCCAAACCATCTGTATACCATGAACCTTCCAGCATTGGGTCCATGGCTCTGACTGAGAGT
GCACTATCCCAGCATGGTTTGTCAAAAGTGGTATACAGTGGACCTCATCCTCAAAGGGAGATGCTGACAGCACAGAATCGGTTTGAAGTG
TTGACATTCCTTTTGTTGTGTTACAATGCTGCCTTAACTTACATGCCCAGTGTTTCTCTTCAGTCACTGTGTCAAATTTGTTCAAGGTAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_FAM126A_ENST00000432176_chr7_23015829_-_STEAP1B_ENST00000406890_chr7_22459455_-_1252nt
GAGAGGCTGGCGGCAGTGGTGGCTCTCCCGGCTGGGTTGTCAGTCAGTGAGAGGAGGGGGAAGATGGCTCACCGGGACCCGTTCTGCTAG
GAAGAAGGGGAGCAGGTGGTGCTGCTACTCGGGAGGAAGCAGAGCAGCCTCCGTCGCTGTCGCTGAGAGCCTCACGAGTCGAGGTCCTGC
AGGTGGAGCTCCGGCAGCCGCCCTGGTTGAAGGTTTAGAACAGATGTGGAAAAATGTTTACTTCAGAGAAAGGGGTTGTGGAGGAATGGT
TGTCAGAGTTTAAGACATTACCAGAAACATCTTTACCAAATTATGCCACAAATTTGAAAGACAAGAGTTCTTTAGTTTCATCTCTCTATA
AAGTTATCCAGGAGCCACAAAGTGAGTTGCTAGAACCTGTCTGTCACCAGCTCTTTGAATTCTATCGCAGTGGAGAGGAGCAGTTGCTTC
AATTTACGCTGCAATTTCTCCCAGAACTAATTTGGTGCTACCTTGCAGTCTCAGCCAGCAGAAATGTGCATAGCAGTGGATGCATTGAAG
CTCTTCTTCTAGGGGTTTACAATTTGGAAATAGTTGACAAACAGGGACATACCAAAGTATTGAGTTTTACGATTCCATCTTTATCCAAAC
CATCTGTATACCATGAACCTTCCAGCATTGGGTCCATGGCTCTGACTGAGAGTGCACTATCCCAGCATGGTTTGTCAAAAGTGGTATACA
GTGGACCTCATCCTCAAAGGGAGATGCTGACAGCACAGAATCGGTTTGAAGTGTTGACATTCCTTTTGTTGTGTTACAATGCTGCCTTAA
CTTACATGCCCAGTGTTTCTCTTCAGTCACTGTGTCAAATTTGTTCAAGGTACATGGTAGGATCAACTTCCTGACCTTGTGACAGATCCT
GCCAGTAACATGAGAGGAAATGAGAACGAGGCTTTGGAGCACAGCATTGGATTGCTCATGCAGAACACCACCCAGTGCCCTTTCCCTCTG
CCACAATGAACAGCCATGCTGCAGGTGACGGCTGCTCTGTCAACATGGATCCGGCAGGGCAGATGAGTGGATCCCCCAGCGGACTCATGA
GAGAGCAAACAAAAAGTCCATATGTGTTGTGCTAATCCACTGAGATTGTGTTGGTTGTTACGGAGCCTAACCTAGCCTATCCCGACACGA

>In-frame_FAM126A_ENST00000409923_chr7_23015829_-_STEAP1B_ENST00000406890_chr7_22459455_-_1207nt
AGTGAGAGGAGGGGGAAGATGGCTCACCGGGACCCGTTCTGCTAGGAAGAAGGGGAGCAGGTGGTGCTGCTACTCGGGAGGAAGCAGAGC
AGCCTCCGTCGCTGTCGCTGAGAGCCTCACGAGTCGAGGTCCTGCAGGTGGAGCTCCGGCAGCCGCCCTGGTTGAAGGTTTAGAACAGAT
GTGGAAAAATGTTTACTTCAGAGAAAGGGGTTGTGGAGGAATGGTTGTCAGAGTTTAAGACATTACCAGAAACATCTTTACCAAATTATG
CCACAAATTTGAAAGACAAGAGTTCTTTAGTTTCATCTCTCTATAAAGTTATCCAGGAGCCACAAAGTGAGTTGCTAGAACCTGTCTGTC
ACCAGCTCTTTGAATTCTATCGCAGTGGAGAGGAGCAGTTGCTTCAATTTACGCTGCAATTTCTCCCAGAACTAATTTGGTGCTACCTTG
CAGTCTCAGCCAGCAGAAATGTGCATAGCAGTGGATGCATTGAAGCTCTTCTTCTAGGGGTTTACAATTTGGAAATAGTTGACAAACAGG
GACATACCAAAGTATTGAGTTTTACGATTCCATCTTTATCCAAACCATCTGTATACCATGAACCTTCCAGCATTGGGTCCATGGCTCTGA
CTGAGAGTGCACTATCCCAGCATGGTTTGTCAAAAGTGGTATACAGTGGACCTCATCCTCAAAGGGAGATGCTGACAGCACAGAATCGGT
TTGAAGTGTTGACATTCCTTTTGTTGTGTTACAATGCTGCCTTAACTTACATGCCCAGTGTTTCTCTTCAGTCACTGTGTCAAATTTGTT
CAAGGTACATGGTAGGATCAACTTCCTGACCTTGTGACAGATCCTGCCAGTAACATGAGAGGAAATGAGAACGAGGCTTTGGAGCACAGC
ATTGGATTGCTCATGCAGAACACCACCCAGTGCCCTTTCCCTCTGCCACAATGAACAGCCATGCTGCAGGTGACGGCTGCTCTGTCAACA
TGGATCCGGCAGGGCAGATGAGTGGATCCCCCAGCGGACTCATGAGAGAGCAAACAAAAAGTCCATATGTGTTGTGCTAATCCACTGAGA
TTGTGTTGGTTGTTACGGAGCCTAACCTAGCCTATCCCGACACGAGGATCAGACATGATAATCAAATGTGTTTATAAAGTGTTGGATGGA


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FusionGenePPI for FAM126A_STEAP1B


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
FAM126ALPAR6, P2RY8, GAN, CDH1, RGS20, GC, RPGR, P2RX5, SHPK, NR2F2STEAP1BSTEAP1, 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 FAM126A_STEAP1B


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 FAM126A_STEAP1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAM126AC1864663HYPOMYELINATION AND CONGENITAL CATARACT2CTD_human;ORPHANET;UNIPROT
HgeneFAM126AC0236969Substance-Related Disorders1CTD_human
HgeneFAM126AC3714756Intellectual Disability1CTD_human