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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FAF1-SKI (FusionGDB2 ID:28168)

Fusion Gene Summary for FAF1-SKI

check button Fusion gene summary
Fusion gene informationFusion gene name: FAF1-SKI
Fusion gene ID: 28168
HgeneTgene
Gene symbol

FAF1

SKI

Gene ID

11124

6497

Gene nameFas associated factor 1SKI proto-oncogene
SynonymsCGI-03|HFAF1s|UBXD12|UBXN3A|hFAF1SGS|SKV
Cytomap

1p32.3

1p36.33-p36.32

Type of geneprotein-codingprotein-coding
DescriptionFAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3Aski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog
Modification date2020031320200329
UniProtAcc

Q9UNN5

SKIDA1,C10orf140

Ensembl transtripts involved in fusion geneENST00000396153, ENST00000371778, 
ENST00000545823, ENST00000472808, 
ENST00000378536, ENST00000478223, 
Fusion gene scores* DoF score23 X 21 X 9=434717 X 5 X 6=510
# samples 3117
** MAII scorelog2(31/4347*10)=-3.80967997500385
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/510*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAF1 [Title/Abstract] AND SKI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAF1(51425439)-SKI(2234417), # samples:2
SKI(2161174)-FAF1(51267349), # samples:3
Anticipated loss of major functional domain due to fusion event.FAF1-SKI seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FAF1-SKI seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
FAF1-SKI seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
* 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
HgeneFAF1

GO:0010942

positive regulation of cell death

15596450

TgeneSKI

GO:0000122

negative regulation of transcription by RNA polymerase II

17469184

TgeneSKI

GO:0008285

negative regulation of cell proliferation

11430826

TgeneSKI

GO:0014902

myotube differentiation

19008232

TgeneSKI

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17469184

TgeneSKI

GO:0030514

negative regulation of BMP signaling pathway

14699069

TgeneSKI

GO:0032926

negative regulation of activin receptor signaling pathway

14699069

TgeneSKI

GO:0043388

positive regulation of DNA binding

15107821

TgeneSKI

GO:0045668

negative regulation of osteoblast differentiation

14699069

TgeneSKI

GO:0060395

SMAD protein signal transduction

12874272


check buttonFusion gene breakpoints across FAF1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SKI (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-D7-6822-01AFAF1chr1

51425439

-SKIchr1

2234417

+
ChimerDB4STADTCGA-D7-6822FAF1chr1

51425438

-SKIchr1

2234416

+
ChimerDB4STADTCGA-D7-6822-01AFAF1chr1

51425439

-SKIchr1

2234417

+


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Fusion Gene ORF analysis for FAF1-SKI

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-frameENST00000396153ENST00000378536FAF1chr1

51425439

-SKIchr1

2234417

+
5CDS-3UTRENST00000396153ENST00000478223FAF1chr1

51425439

-SKIchr1

2234417

+
Frame-shiftENST00000371778ENST00000378536FAF1chr1

51425439

-SKIchr1

2234417

+
5CDS-3UTRENST00000371778ENST00000478223FAF1chr1

51425439

-SKIchr1

2234417

+
intron-3CDSENST00000545823ENST00000378536FAF1chr1

51425439

-SKIchr1

2234417

+
intron-3UTRENST00000545823ENST00000478223FAF1chr1

51425439

-SKIchr1

2234417

+
intron-3CDSENST00000472808ENST00000378536FAF1chr1

51425439

-SKIchr1

2234417

+
intron-3UTRENST00000472808ENST00000478223FAF1chr1

51425439

-SKIchr1

2234417

+
In-frameENST00000396153ENST00000378536FAF1chr1

51425438

-SKIchr1

2234416

+
5CDS-3UTRENST00000396153ENST00000478223FAF1chr1

51425438

-SKIchr1

2234416

+
Frame-shiftENST00000371778ENST00000378536FAF1chr1

51425438

-SKIchr1

2234416

+
5CDS-3UTRENST00000371778ENST00000478223FAF1chr1

51425438

-SKIchr1

2234416

+
intron-3CDSENST00000545823ENST00000378536FAF1chr1

51425438

-SKIchr1

2234416

+
intron-3UTRENST00000545823ENST00000478223FAF1chr1

51425438

-SKIchr1

2234416

+
intron-3CDSENST00000472808ENST00000378536FAF1chr1

51425438

-SKIchr1

2234416

+
intron-3UTRENST00000472808ENST00000478223FAF1chr1

51425438

-SKIchr1

2234416

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000396153FAF1chr151425439-ENST00000378536SKIchr12234417+50694971401714524
ENST00000396153FAF1chr151425438-ENST00000378536SKIchr12234416+50694971401714524

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000396153ENST00000378536FAF1chr151425439-SKIchr12234417+0.0039755770.99602437
ENST00000396153ENST00000378536FAF1chr151425438-SKIchr12234416+0.0039755770.99602437

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Fusion Genomic Features for FAF1-SKI


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
FAF1chr151425438-SKIchr12234416+3.80E-091
FAF1chr151425438-SKIchr12234416+3.80E-091
FAF1chr151425438-SKIchr12234416+3.80E-091
FAF1chr151425438-SKIchr12234416+3.80E-091

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FAF1-SKI


check button Go to

FGviewer for the breakpoints of chr1:51425439-chr1:2234417

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAF1

Q9UNN5

SKI

SKIDA1,C10orf140

FUNCTION: Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity). {ECO:0000250|UniProtKB:P54731, ECO:0000269|PubMed:19722279, ECO:0000269|PubMed:26842564}.908

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
TgeneSKIchr1:51425438chr1:2234416ENST0000037853607536_710323.0729.0Coiled coilOntology_term=ECO:0000255
TgeneSKIchr1:51425439chr1:2234417ENST0000037853607536_710323.0729.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFAF1chr1:51425438chr1:2234416ENST00000371778-2201_5715.0651.0DomainUBA
HgeneFAF1chr1:51425438chr1:2234416ENST00000371778-220569_64615.0651.0DomainUBX
HgeneFAF1chr1:51425438chr1:2234416ENST00000396153-1191_5715.0651.0DomainUBA
HgeneFAF1chr1:51425438chr1:2234416ENST00000396153-119569_64615.0651.0DomainUBX
HgeneFAF1chr1:51425439chr1:2234417ENST00000371778-2201_5715.0651.0DomainUBA
HgeneFAF1chr1:51425439chr1:2234417ENST00000371778-220569_64615.0651.0DomainUBX
HgeneFAF1chr1:51425439chr1:2234417ENST00000396153-1191_5715.0651.0DomainUBA
HgeneFAF1chr1:51425439chr1:2234417ENST00000396153-119569_64615.0651.0DomainUBX


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Fusion Gene Sequence for FAF1-SKI


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000396153_ENST00000378536_TCGA-D7-6822-01A_FAF1_chr1_51425439_-_SKI_chr1_2234417_length(transcript)=5069nt_BP=497nt
AGGGGCGGAGGCGGCGGCCAGGGAGGAAGCGGAGGAGGCGGAGGCGGCCGCGGCGTTCGCCCGCCCGCTCGCTCGCTCGGTTTCCCCGCC
CCCGCCGGGCTTAACGCCGCTGAAGGTATCCGGGTGCGCGCTGTCGCAACCTGCCCTCATCCTGGCCCGCGACTGTAAGACCGGACCCAC
ATCCAGACCAATCTTCCTGTCCGGGCTGCTGCGACGCGGGCTCCGCAGGTTGCAGGCGGGCGGCCGGGGCGCCTGAAGGTTACCGAGTGC
ATGAGCGCCTAGCGCTTCCCGCGCTGCCCCGCCCGCTGGCCCGCCGACCCGCCCGCCGGCTCGCCCGCCAGCCCCTCGGCGCCCGGCGGC
GGCGGCGGCGGTGGCGGCGACGGTCGCAGGAGGTGCCGTCTGCCTCCCAGGTGCGCGCTTCGCTCCCGGAGCCGCGGAACTCGGCGGCCG
CCATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAGGTCTCCTCTGAGCCTCCGGCCTCCATAAGACCCAAAACAGATG
ACACCTCTTCCCAGTCCCCCGCGCCTTCCGAAAAGGACAAGCCGTCCAGCTGGCTGCGGACCTTGGCCGGCTCTTCCAATAAGAGCCTGG
GCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGACCCTGGTCCCCCGCAGTGTCAGCGAGTGAGAAAGAGCTCTCCCCACACCTCC
CGGCCCTCATCCGAGACAGCTTCTACTCCTACAAGAGCTTTGAGACAGCCGTGGCGCCCAACGTGGCCCTCGCACCGCCGGCCCAGCAGA
AGGTTGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCCCGGGCCCCCGAGCCTCTCGCCACTTGCACCCAGCCTCGGAAGCGGAAGCTGA
CTGTGGACACCCCAGGAGCCCCAGAGACGCTGGCGCCCGTGGCTGCCCCAGAGGAGGACAAGGACTCGGAGGCGGAGGTGGAAGTTGAAA
GCAGGGAGGAATTCACCTCCTCCTTGTCCTCGCTCTCTTCCCCGTCCTTTACCTCATCCAGCTCCGCCAAGGACCTGGGCTCCCCGGGTG
CGCGTGCCCTGCCCTCGGCCGTCCCTGATGCTGCGGCCCCTGCCGACGCCCCCAGTGGGCTGGAGGCGGAGCTGGAGCACCTGCGGCAGG
CACTGGAGGGCGGCCTGGACACCAAGGAAGCCAAAGAGAAGTTCCTGCATGAGGTGGTCAAGATGCGCGTGAAGCAGGAGGAGAAGCTCA
GCGCAGCCCTGCAGGCCAAGCGCAGCCTCCACCAGGAGCTGGAGTTCCTACGCGTGGCCAAGAAGGAGAAGCTGCGGGAGGCCACGGAGG
CCAAGCGTAACCTGCGGAAGGAGATCGAGCGTCTCCGCGCCGAGAACGAGAAGAAGATGAAAGAGGCCAACGAGTCACGGCTGCGCCTGA
AGCGGGAGCTGGAGCAGGCGCGGCAGGCCCGGGTGTGCGACAAGGGCTGCGAGGCGGGCCGCCTGCGCGCCAAGTACTCGGCCCAGATCG
AAGACCTGCAGGTGAAGCTGCAGCACGCGGAGGCGGACCGGGAGCAGCTGCGGGCCGACCTGCTGCGGGAGCGCGAGGCCCGGGAGCACC
TGGAGAAGGTGGTGAAGGAGCTGCAGGAACAGCTGTGGCCGCGGGCCCGCCCCGAGGCTGCGGGCAGCGAGGGCGCTGCGGAGCTGGAGC
CGTAGATTCCGTGCCTGCCGCCGCAGCGCCGCCGACAACGCGGGTGCAGGGGGGCGCGGCTGGGCGGTGCAGCTCCGCCCGGCTCCGCCC
CTGCAGCCCACACAGCACAACGTCTTACCGTGCCTATTACCAAGCGAGTGTTTGTAACCATGTAGTTTTGGAACCCACTGCAAAATTTTC
TACTGGCCAAGTTCAAGTGAGTAAGCCGCGTCCCCCAACTACAGCTGGAGACGGGGCCAGCTCGGCGGCCTGCTGGTCCTCTGCTTGCTG
GAACATTCTAACATTTACACTTTTGTTATAAGCTATTTAAAACCAGTAAGGAGACTTGAAATTCAGAAAATCAACACATTTTTAAATGAC
TAACTTCTAAAAGCCCCAACACATGACGCCATCTGAAGACCCGCAACGGAGTGGGGGTGGCGGCCGCCCCACCCTCCCCACCCGGGGAAG
CCATCACAGCTCATCTGCCCGCGGCTGCGTGAGGACAGCAGGGGTTTTTCTTCAGAGTCTATTTTTTCAGCGACAAGGACCCAGGTCTTC
CTGCTGCTGCCAGGGAGAGCAGGGACAGTGCCGCGTGCGAGATGAGCTCGAACACTGCCCGCCTTACTGCCGCCTACCCCGCCCGCCACG
CCGCCGTCGATGCCAGCGCTGTCCCCACGGGTACCAGGAAGTGCAGAGCCGCACAGGAGCTGCCCCGGAGCTGAGGGGACGGTCTTCGGC
TCCTCTGCACCCCGTGATTCTGCCCACGCTCCTCCACCACGAGGCACTGACCTGCGTCGGGTGGTGACCGTGGCTGGCGGTCACGCCCTC
AGCCCCTCCGGGCACACGTGCCGCCTGACCGGGCGACCCTTTTCAGTTCGGCAAACGTCGCTCCCTTCATTTTGGGACTGAGGCTGCAGC
ATTGGAACAAAAGAGCATTATTTCAATTTTTCTTTCTTTTTTTTTGTTCGTTCATTTAAACGTATATTTAGAACTGCACTTTGTCCACAA
CCTTCCCTTCTCTTTCTATTCCCCAGTGAACTGAGGTTTTTACCGATTTATAGAGCAGTCAAATCCGAAGTGCTCGAGTGCTTAGAAACC
CCCTCTGGTGCTTGGTTGAACAAGGGAATCACAAGAAAACGAAAATGCAAAAACTGAACTTCGGGGGTCGTTCTGTGCCTTCCAGCATCT
TGTACAGCAAATCCTGACTCGTGTCTTTTTACCCCCAAGATATCTGTCTTCAGTAGCGACTGAATCTGCCACTCTCAGAATAAGTTCCTT
GCATTTATTCCAAATAATCTCGTTTACTCTCACCTGTTTATGCAAATTGTATAAGGTTTCTTATGCCCAAGCTTGAAAAATGATTTCCCA
GTAGACAAGAGGCGGCTACCTATCCTACAGTTACGGTATTTATTTACATAAGAAGATCTTACAGGAGTTCTTTGCTTGAATCCGTTCTAA
CACCCGCGGCAGCTGCACGCGCTCACAGAAGGTGGAGGTTACTTGCCCAGGTACAGACGACCTCGGGGCAGTGACGAGCAAAGACCAGAG
ACTGCTGAGCCCTCGCATCTGGGTGGCGGAATTGCCTGCGGGGTTTTGCCCTTGGTTTACTGAGGGGGGTCTTGGTTGCTGCTGAAGCCC
CCCACCCCTTCTAAAGTGCAATGCAAAAGGGACATCATGTATATGCAGCGTTTGTTTGGAATTTTCTTTGCTTTTGTTTTCTTTGCGGTT
GTTCTGTGTGCATGGATTCCACACCTCTGCCGTAGGTAGATCCGTCAGCGGGCATTATTACCGTGTCTTGTAAAGGGTCGGTTTTGTTAT
GCAACATGCAGAATGCTGTTTTTAGCCTTGTTTTACCAGAGTTGTTTTTTTTTTCAGTTATTTCTTCAAGGGAAACTAAATGATTTAGTT
GGAGCAAAGCTTTAAGTGTGTTGGCGTGCTTCTGTGTGGCTGTCCTGTGTCGCCAGGTCGAAGATCACAGTGAGGTAGAGGCCCTGCCCC
ATCCCCAGGGCCGCCAGGCTTGCTCCGTTTGCTTTGAGTTTTTAGACCCCAGAGGGAGATGAGCTTTTCCAAGCTGTGTCTGGGCCAGAG
CCTCTCCTTGCCCTTGCTCCATCCCGACGGTCACCGTTGGGTCCACGCCTCCACCGCCCCATCTTGCCCCAAACGGAAAGCGCTGTATCT
GCAGTGGCAGCCCTTCCCCACTTCGGCTCTGGGAGGGTCCAGCCAGTGTCACCTGGGCCCACCCTTTCCTGCAGCTGCCAGGCCCGTGCG
GTCAGTGGGACCCGGACGTGGGCAGGCGAGCTCGGGACCCTCCCAGGCAGTTCCCACAGCTCTTGCCTCGGCTCACCAGGGTCACTTCCA
CTGTCAGGGGCCTGAGGGGGCAGCTGTGGCTGCAGGGCTGCTCTGGACTGAGGGGTCCCAGGCCCCGAGGGGTGCACGCCTGGCTCCCCT
TGGCACAGGTGCGAGTCCGTTTCTTTTCAGCAGAAGGGGGAAGAGGTGTCCGCTGTGTGGGCTGCTGACTCCTCTGTGTGTGAGGCCCTT
CATCTAAGTGATTGTGTATTCAGTTTAATTCTCATTATATTTCTATACTGAAAGAAGATTTTTAACGAAGGGAAAAACAACAGCAATAAC
ATTCATATCTCTGGAGCAGCTAACTCATACACGTAATGTCTGCTTTTCGTACAGAACTAGCCAATGTAAAAACAGTTCACCTGTAAATAC
TTTTTCCTTTTTCACCGTTGTATTATACATGTATATGCTGGGTCCTTTTTCAGAAACTCTTTTCTTACCTGAGAGTTGTCTTGTTTTCTG
GGCTGTTTTTAACTGAGGAAAAAAAAAATGCTTTCCTGCCGGGGGGCAGGGGAGACGGAGAAACCCATGTGCGTTTCCCATGTGACCCCC
TCCTCCCTGTGGGTCTGAGCCCCGGCCCCCCCCACCTCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGG
TCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCCGATCCCCGGCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
CCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCTCCCTCAGCCCACCAGGGTCCAGGGAGATGTTCGTTCT
CGCTTTAAGTCAGGAGTCACAAATGACTTTTTTTTTTCAATTAAGGAAAAAGCTCCATCTCTACCTTTAACATCACCCAGACCCCCGCCC
CTGCCCGTGCCCCACGCTGCTGCTAACGACAGTATGATGCTTACTCTGCTACTCGGAAACTATTTTTATGTAATTAATGTATGCTTTCTT

>In-frame_ENST00000396153_ENST00000378536_TCGA-D7-6822-01A_FAF1_chr1_51425439_-_SKI_chr1_2234417_length(amino acids)=524AA_start in transcript=140_stop in transcript=1714
MPSSWPATVRPDPHPDQSSCPGCCDAGSAGCRRAAGAPEGYRVHERLALPALPRPLARRPARRLARQPLGARRRRRRWRRRSQEVPSASQ
VRASLPEPRNSAAAMASNMDREMILADFQVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSP
AVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAP
EEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKEKFLH
EVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGC

--------------------------------------------------------------
>In-frame_ENST00000396153_ENST00000378536_TCGA-D7-6822_FAF1_chr1_51425438_-_SKI_chr1_2234416_length(transcript)=5069nt_BP=497nt
AGGGGCGGAGGCGGCGGCCAGGGAGGAAGCGGAGGAGGCGGAGGCGGCCGCGGCGTTCGCCCGCCCGCTCGCTCGCTCGGTTTCCCCGCC
CCCGCCGGGCTTAACGCCGCTGAAGGTATCCGGGTGCGCGCTGTCGCAACCTGCCCTCATCCTGGCCCGCGACTGTAAGACCGGACCCAC
ATCCAGACCAATCTTCCTGTCCGGGCTGCTGCGACGCGGGCTCCGCAGGTTGCAGGCGGGCGGCCGGGGCGCCTGAAGGTTACCGAGTGC
ATGAGCGCCTAGCGCTTCCCGCGCTGCCCCGCCCGCTGGCCCGCCGACCCGCCCGCCGGCTCGCCCGCCAGCCCCTCGGCGCCCGGCGGC
GGCGGCGGCGGTGGCGGCGACGGTCGCAGGAGGTGCCGTCTGCCTCCCAGGTGCGCGCTTCGCTCCCGGAGCCGCGGAACTCGGCGGCCG
CCATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAGGTCTCCTCTGAGCCTCCGGCCTCCATAAGACCCAAAACAGATG
ACACCTCTTCCCAGTCCCCCGCGCCTTCCGAAAAGGACAAGCCGTCCAGCTGGCTGCGGACCTTGGCCGGCTCTTCCAATAAGAGCCTGG
GCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGACCCTGGTCCCCCGCAGTGTCAGCGAGTGAGAAAGAGCTCTCCCCACACCTCC
CGGCCCTCATCCGAGACAGCTTCTACTCCTACAAGAGCTTTGAGACAGCCGTGGCGCCCAACGTGGCCCTCGCACCGCCGGCCCAGCAGA
AGGTTGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCCCGGGCCCCCGAGCCTCTCGCCACTTGCACCCAGCCTCGGAAGCGGAAGCTGA
CTGTGGACACCCCAGGAGCCCCAGAGACGCTGGCGCCCGTGGCTGCCCCAGAGGAGGACAAGGACTCGGAGGCGGAGGTGGAAGTTGAAA
GCAGGGAGGAATTCACCTCCTCCTTGTCCTCGCTCTCTTCCCCGTCCTTTACCTCATCCAGCTCCGCCAAGGACCTGGGCTCCCCGGGTG
CGCGTGCCCTGCCCTCGGCCGTCCCTGATGCTGCGGCCCCTGCCGACGCCCCCAGTGGGCTGGAGGCGGAGCTGGAGCACCTGCGGCAGG
CACTGGAGGGCGGCCTGGACACCAAGGAAGCCAAAGAGAAGTTCCTGCATGAGGTGGTCAAGATGCGCGTGAAGCAGGAGGAGAAGCTCA
GCGCAGCCCTGCAGGCCAAGCGCAGCCTCCACCAGGAGCTGGAGTTCCTACGCGTGGCCAAGAAGGAGAAGCTGCGGGAGGCCACGGAGG
CCAAGCGTAACCTGCGGAAGGAGATCGAGCGTCTCCGCGCCGAGAACGAGAAGAAGATGAAAGAGGCCAACGAGTCACGGCTGCGCCTGA
AGCGGGAGCTGGAGCAGGCGCGGCAGGCCCGGGTGTGCGACAAGGGCTGCGAGGCGGGCCGCCTGCGCGCCAAGTACTCGGCCCAGATCG
AAGACCTGCAGGTGAAGCTGCAGCACGCGGAGGCGGACCGGGAGCAGCTGCGGGCCGACCTGCTGCGGGAGCGCGAGGCCCGGGAGCACC
TGGAGAAGGTGGTGAAGGAGCTGCAGGAACAGCTGTGGCCGCGGGCCCGCCCCGAGGCTGCGGGCAGCGAGGGCGCTGCGGAGCTGGAGC
CGTAGATTCCGTGCCTGCCGCCGCAGCGCCGCCGACAACGCGGGTGCAGGGGGGCGCGGCTGGGCGGTGCAGCTCCGCCCGGCTCCGCCC
CTGCAGCCCACACAGCACAACGTCTTACCGTGCCTATTACCAAGCGAGTGTTTGTAACCATGTAGTTTTGGAACCCACTGCAAAATTTTC
TACTGGCCAAGTTCAAGTGAGTAAGCCGCGTCCCCCAACTACAGCTGGAGACGGGGCCAGCTCGGCGGCCTGCTGGTCCTCTGCTTGCTG
GAACATTCTAACATTTACACTTTTGTTATAAGCTATTTAAAACCAGTAAGGAGACTTGAAATTCAGAAAATCAACACATTTTTAAATGAC
TAACTTCTAAAAGCCCCAACACATGACGCCATCTGAAGACCCGCAACGGAGTGGGGGTGGCGGCCGCCCCACCCTCCCCACCCGGGGAAG
CCATCACAGCTCATCTGCCCGCGGCTGCGTGAGGACAGCAGGGGTTTTTCTTCAGAGTCTATTTTTTCAGCGACAAGGACCCAGGTCTTC
CTGCTGCTGCCAGGGAGAGCAGGGACAGTGCCGCGTGCGAGATGAGCTCGAACACTGCCCGCCTTACTGCCGCCTACCCCGCCCGCCACG
CCGCCGTCGATGCCAGCGCTGTCCCCACGGGTACCAGGAAGTGCAGAGCCGCACAGGAGCTGCCCCGGAGCTGAGGGGACGGTCTTCGGC
TCCTCTGCACCCCGTGATTCTGCCCACGCTCCTCCACCACGAGGCACTGACCTGCGTCGGGTGGTGACCGTGGCTGGCGGTCACGCCCTC
AGCCCCTCCGGGCACACGTGCCGCCTGACCGGGCGACCCTTTTCAGTTCGGCAAACGTCGCTCCCTTCATTTTGGGACTGAGGCTGCAGC
ATTGGAACAAAAGAGCATTATTTCAATTTTTCTTTCTTTTTTTTTGTTCGTTCATTTAAACGTATATTTAGAACTGCACTTTGTCCACAA
CCTTCCCTTCTCTTTCTATTCCCCAGTGAACTGAGGTTTTTACCGATTTATAGAGCAGTCAAATCCGAAGTGCTCGAGTGCTTAGAAACC
CCCTCTGGTGCTTGGTTGAACAAGGGAATCACAAGAAAACGAAAATGCAAAAACTGAACTTCGGGGGTCGTTCTGTGCCTTCCAGCATCT
TGTACAGCAAATCCTGACTCGTGTCTTTTTACCCCCAAGATATCTGTCTTCAGTAGCGACTGAATCTGCCACTCTCAGAATAAGTTCCTT
GCATTTATTCCAAATAATCTCGTTTACTCTCACCTGTTTATGCAAATTGTATAAGGTTTCTTATGCCCAAGCTTGAAAAATGATTTCCCA
GTAGACAAGAGGCGGCTACCTATCCTACAGTTACGGTATTTATTTACATAAGAAGATCTTACAGGAGTTCTTTGCTTGAATCCGTTCTAA
CACCCGCGGCAGCTGCACGCGCTCACAGAAGGTGGAGGTTACTTGCCCAGGTACAGACGACCTCGGGGCAGTGACGAGCAAAGACCAGAG
ACTGCTGAGCCCTCGCATCTGGGTGGCGGAATTGCCTGCGGGGTTTTGCCCTTGGTTTACTGAGGGGGGTCTTGGTTGCTGCTGAAGCCC
CCCACCCCTTCTAAAGTGCAATGCAAAAGGGACATCATGTATATGCAGCGTTTGTTTGGAATTTTCTTTGCTTTTGTTTTCTTTGCGGTT
GTTCTGTGTGCATGGATTCCACACCTCTGCCGTAGGTAGATCCGTCAGCGGGCATTATTACCGTGTCTTGTAAAGGGTCGGTTTTGTTAT
GCAACATGCAGAATGCTGTTTTTAGCCTTGTTTTACCAGAGTTGTTTTTTTTTTCAGTTATTTCTTCAAGGGAAACTAAATGATTTAGTT
GGAGCAAAGCTTTAAGTGTGTTGGCGTGCTTCTGTGTGGCTGTCCTGTGTCGCCAGGTCGAAGATCACAGTGAGGTAGAGGCCCTGCCCC
ATCCCCAGGGCCGCCAGGCTTGCTCCGTTTGCTTTGAGTTTTTAGACCCCAGAGGGAGATGAGCTTTTCCAAGCTGTGTCTGGGCCAGAG
CCTCTCCTTGCCCTTGCTCCATCCCGACGGTCACCGTTGGGTCCACGCCTCCACCGCCCCATCTTGCCCCAAACGGAAAGCGCTGTATCT
GCAGTGGCAGCCCTTCCCCACTTCGGCTCTGGGAGGGTCCAGCCAGTGTCACCTGGGCCCACCCTTTCCTGCAGCTGCCAGGCCCGTGCG
GTCAGTGGGACCCGGACGTGGGCAGGCGAGCTCGGGACCCTCCCAGGCAGTTCCCACAGCTCTTGCCTCGGCTCACCAGGGTCACTTCCA
CTGTCAGGGGCCTGAGGGGGCAGCTGTGGCTGCAGGGCTGCTCTGGACTGAGGGGTCCCAGGCCCCGAGGGGTGCACGCCTGGCTCCCCT
TGGCACAGGTGCGAGTCCGTTTCTTTTCAGCAGAAGGGGGAAGAGGTGTCCGCTGTGTGGGCTGCTGACTCCTCTGTGTGTGAGGCCCTT
CATCTAAGTGATTGTGTATTCAGTTTAATTCTCATTATATTTCTATACTGAAAGAAGATTTTTAACGAAGGGAAAAACAACAGCAATAAC
ATTCATATCTCTGGAGCAGCTAACTCATACACGTAATGTCTGCTTTTCGTACAGAACTAGCCAATGTAAAAACAGTTCACCTGTAAATAC
TTTTTCCTTTTTCACCGTTGTATTATACATGTATATGCTGGGTCCTTTTTCAGAAACTCTTTTCTTACCTGAGAGTTGTCTTGTTTTCTG
GGCTGTTTTTAACTGAGGAAAAAAAAAATGCTTTCCTGCCGGGGGGCAGGGGAGACGGAGAAACCCATGTGCGTTTCCCATGTGACCCCC
TCCTCCCTGTGGGTCTGAGCCCCGGCCCCCCCCACCTCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGG
TCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCCGATCCCCGGCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
CCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCTCCCTCAGCCCACCAGGGTCCAGGGAGATGTTCGTTCT
CGCTTTAAGTCAGGAGTCACAAATGACTTTTTTTTTTCAATTAAGGAAAAAGCTCCATCTCTACCTTTAACATCACCCAGACCCCCGCCC
CTGCCCGTGCCCCACGCTGCTGCTAACGACAGTATGATGCTTACTCTGCTACTCGGAAACTATTTTTATGTAATTAATGTATGCTTTCTT

>In-frame_ENST00000396153_ENST00000378536_TCGA-D7-6822_FAF1_chr1_51425438_-_SKI_chr1_2234416_length(amino acids)=524AA_start in transcript=140_stop in transcript=1714
MPSSWPATVRPDPHPDQSSCPGCCDAGSAGCRRAAGAPEGYRVHERLALPALPRPLARRPARRLARQPLGARRRRRRWRRRSQEVPSASQ
VRASLPEPRNSAAAMASNMDREMILADFQVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSP
AVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAP
EEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKEKFLH
EVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGC

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Fusion Gene PPI Analysis for FAF1-SKI


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


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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Related Drugs for FAF1-SKI


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FAF1-SKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSKIC1321551Shprintzen-Goldberg syndrome4CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSKIC1842870Chromosome 1p36 Deletion Syndrome2ORPHANET
TgeneSKIC0003486Aortic Aneurysm1CTD_human
TgeneSKIC0011999Diastematomyelia1CTD_human
TgeneSKIC0027794Neural Tube Defects1CTD_human
TgeneSKIC0027806Neurenteric Cyst1CTD_human
TgeneSKIC0080218Tethered Cord Syndrome1CTD_human
TgeneSKIC0151491Congenital musculoskeletal anomalies1CTD_human
TgeneSKIC0152234Iniencephaly1CTD_human
TgeneSKIC0152426Craniorachischisis1CTD_human
TgeneSKIC0266453Exencephaly1CTD_human
TgeneSKIC0344479Spinal Cord Myelodysplasia1CTD_human
TgeneSKIC0376634Craniofacial Abnormalities1CTD_human
TgeneSKIC0702169Acrania1CTD_human