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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: 1421

FusionGeneSummary for AKTIP_COTL1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKTIP_COTL1
Fusion gene ID: 1421
HgeneTgene
Gene symbol

AKTIP

COTL1

Gene ID

64400

23406

Gene nameAKT interacting proteincoactosin like F-actin binding protein 1
SynonymsFT1|FTSCLP
Cytomap

16q12.2

16q24.1

Type of geneprotein-codingprotein-coding
DescriptionAKT-interacting proteinfused toes homologcoactosin-like proteincoactosin-like 1
Modification date2018052220180519
UniProtAcc

Q9H8T0

Q14019

Ensembl transtripts involved in fusion geneENST00000394657, ENST00000300245, 
ENST00000570004, 
ENST00000262428, 
ENST00000567278, ENST00000564057, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 3 X 3=36
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AKTIP [Title/Abstract] AND COTL1 [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
HgeneAKTIP

GO:0001934

positive regulation of protein phosphorylation

14749367

HgeneAKTIP

GO:0032092

positive regulation of protein binding

14749367


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
TCGALDLGGTCGA-S9-A7R7-01AAKTIPchr16

53537059

-COTL1chr16

84600561

-
* 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
5UTR-3CDSENST00000394657ENST00000262428AKTIPchr16

53537059

-COTL1chr16

84600561

-
5UTR-5UTRENST00000394657ENST00000567278AKTIPchr16

53537059

-COTL1chr16

84600561

-
5UTR-5UTRENST00000394657ENST00000564057AKTIPchr16

53537059

-COTL1chr16

84600561

-
5UTR-3CDSENST00000300245ENST00000262428AKTIPchr16

53537059

-COTL1chr16

84600561

-
5UTR-5UTRENST00000300245ENST00000567278AKTIPchr16

53537059

-COTL1chr16

84600561

-
5UTR-5UTRENST00000300245ENST00000564057AKTIPchr16

53537059

-COTL1chr16

84600561

-
intron-3CDSENST00000570004ENST00000262428AKTIPchr16

53537059

-COTL1chr16

84600561

-
intron-5UTRENST00000570004ENST00000567278AKTIPchr16

53537059

-COTL1chr16

84600561

-
intron-5UTRENST00000570004ENST00000564057AKTIPchr16

53537059

-COTL1chr16

84600561

-

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FusionProtFeatures for AKTIP_COTL1


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

Q9H8T0

COTL1

Q14019

Component of the FTS/Hook/FHIP complex (FHF complex).The FHF complex may function to promote vesicle trafficking and/orfusion via the homotypic vesicular protein sorting complex (theHOPS complex). Regulates apoptosis by enhancing phosphorylationand activation of AKT1. Increases release of TNFSF6 via theAKT1/GSK3B/NFATC1 signaling cascade. {ECO:0000269|PubMed:14749367,ECO:0000269|PubMed:18799622}. Binds to F-actin in a calcium-independent manner. Has nodirect effect on actin depolymerization. Acts as a chaperone forALOX5 (5LO), influencing both its stability and activity inleukotrienes synthesis. {ECO:0000269|PubMed:11583571,ECO:0000269|PubMed:19807693}.

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 AKTIP_COTL1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for AKTIP_COTL1


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
AKTIPCTBP2, HOOK2, HOOK1, IARS, TIMM50, PDS5A, HDLBP, DCTN1, AKT1, EXOC7, C10orf2, ASS1, GTF3C1, IMMT, POLA2, RPA1, KIAA1377, UTP14A, DZIP3, MARCH5, TRIM23, TRIM41, HOOK3, FAM160A2, VPS16, VPS18, VPS41, TRIM32, NAB1, FAM160A1, TSC1, PGGT1B, TNFSF13B, EGFR, SSX2IP, TERF1, TERF2, PRKDC, TRIM35COTL1ALOX5, ACTA1, ELAVL1, TERF2IP, CD2BP2, ACTG1, ACTB, PDE6H, ARHGDIA, CFL1, FSCN1, HEBP1, TMTC3, CRIP1, DUT, HN1, MDH2, PCBP1, SH3BGRL, TAGLN2, TIAL1, TKT, UBE2M, MCM2


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 AKTIP_COTL1


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 AKTIP_COTL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKTIPC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOTL1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOTL1C1458155Mammary Neoplasms1CTD_human