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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KANSL1L-ERBB4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KANSL1L-ERBB4
FusionPDB ID: 41133
FusionGDB2.0 ID: 41133
HgeneTgene
Gene symbol

KANSL1L

ERBB4

Gene ID

151050

2066

Gene nameKAT8 regulatory NSL complex subunit 1 likeerb-b2 receptor tyrosine kinase 4
SynonymsC2orf67|MSL1v2ALS19|HER4|p180erbB4
Cytomap

2q34

2q34

Type of geneprotein-codingprotein-coding
DescriptionKAT8 regulatory NSL complex subunit 1-like proteinmale-specific lethal 1 homologreceptor tyrosine-protein kinase erbB-4avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosine kinase-type cell surface receptor HER4v-erb-a erythroblastic
Modification date2020031320200327
UniProtAcc

A0AUZ9

Q15303

Ensembl transtripts involved in fusion geneENST idsENST00000281772, ENST00000418791, 
ENST00000452086, ENST00000457374, 
ENST00000429908, 
ENST00000484474, 
ENST00000342788, ENST00000402597, 
ENST00000436443, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 7 X 4=19618 X 16 X 8=2304
# samples 717
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/2304*10)=-3.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KANSL1L [Title/Abstract] AND ERBB4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KANSL1L(210993755)-ERBB4(212495319), # samples:1
Anticipated loss of major functional domain due to fusion event.KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneERBB4

GO:0007165

signal transduction

10572067

TgeneERBB4

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

10353604|18334220

TgeneERBB4

GO:0016477

cell migration

9135143

TgeneERBB4

GO:0018108

peptidyl-tyrosine phosphorylation

18334220

TgeneERBB4

GO:0046777

protein autophosphorylation

18334220


check buttonFusion gene breakpoints across KANSL1L (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ERBB4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BRCATCGA-D8-A27M-01AKANSL1Lchr2

210993755

-ERBB4chr2

212495319

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000281772KANSL1Lchr2210993755-ENST00000436443ERBB4chr2212495319-11321149415013426641
ENST00000281772KANSL1Lchr2210993755-ENST00000342788ERBB4chr2212495319-11369149415013474657
ENST00000281772KANSL1Lchr2210993755-ENST00000402597ERBB4chr2212495319-3475149415013474658
ENST00000418791KANSL1Lchr2210993755-ENST00000436443ERBB4chr2212495319-11265143814453370641
ENST00000418791KANSL1Lchr2210993755-ENST00000342788ERBB4chr2212495319-11313143814453418657
ENST00000418791KANSL1Lchr2210993755-ENST00000402597ERBB4chr2212495319-3419143814453418658
ENST00000452086KANSL1Lchr2210993755-ENST00000436443ERBB4chr2212495319-11265143814453370641
ENST00000452086KANSL1Lchr2210993755-ENST00000342788ERBB4chr2212495319-11313143814453418657
ENST00000452086KANSL1Lchr2210993755-ENST00000402597ERBB4chr2212495319-3419143814453418658

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
ENST00000281772ENST00000436443KANSL1Lchr2210993755-ERBB4chr2212495319-0.0001786490.99982136
ENST00000281772ENST00000342788KANSL1Lchr2210993755-ERBB4chr2212495319-0.0001794120.99982065
ENST00000281772ENST00000402597KANSL1Lchr2210993755-ERBB4chr2212495319-0.0013442940.9986557
ENST00000418791ENST00000436443KANSL1Lchr2210993755-ERBB4chr2212495319-0.0001765710.9998235
ENST00000418791ENST00000342788KANSL1Lchr2210993755-ERBB4chr2212495319-0.0001769570.99982303
ENST00000418791ENST00000402597KANSL1Lchr2210993755-ERBB4chr2212495319-0.0012621290.9987379
ENST00000452086ENST00000436443KANSL1Lchr2210993755-ERBB4chr2212495319-0.0001765710.9998235
ENST00000452086ENST00000342788KANSL1Lchr2210993755-ERBB4chr2212495319-0.0001769570.99982303
ENST00000452086ENST00000402597KANSL1Lchr2210993755-ERBB4chr2212495319-0.0012621290.9987379

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>41133_41133_1_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000281772_ERBB4_chr2_212495319_ENST00000342788_length(amino acids)=657AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI
FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA
SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN

--------------------------------------------------------------

>41133_41133_2_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000281772_ERBB4_chr2_212495319_ENST00000402597_length(amino acids)=658AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI
FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA
SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN

--------------------------------------------------------------

>41133_41133_3_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000281772_ERBB4_chr2_212495319_ENST00000436443_length(amino acids)=641AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAP
HVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAEDEYVNEPL
YLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLP

--------------------------------------------------------------

>41133_41133_4_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000418791_ERBB4_chr2_212495319_ENST00000342788_length(amino acids)=657AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI
FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA
SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN

--------------------------------------------------------------

>41133_41133_5_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000418791_ERBB4_chr2_212495319_ENST00000402597_length(amino acids)=658AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI
FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA
SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN

--------------------------------------------------------------

>41133_41133_6_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000418791_ERBB4_chr2_212495319_ENST00000436443_length(amino acids)=641AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAP
HVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAEDEYVNEPL
YLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLP

--------------------------------------------------------------

>41133_41133_7_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000452086_ERBB4_chr2_212495319_ENST00000342788_length(amino acids)=657AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI
FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA
SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN

--------------------------------------------------------------

>41133_41133_8_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000452086_ERBB4_chr2_212495319_ENST00000402597_length(amino acids)=658AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI
FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA
SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN

--------------------------------------------------------------

>41133_41133_9_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000452086_ERBB4_chr2_212495319_ENST00000436443_length(amino acids)=641AA_BP=
MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG
ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM
MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY
DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE
DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAP
HVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAEDEYVNEPL
YLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLP

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:210993755/chr2:212495319)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KANSL1L

A0AUZ9

ERBB4

Q15303

FUNCTION: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis. {ECO:0000269|PubMed:10348342, ECO:0000269|PubMed:10353604, ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:10722704, ECO:0000269|PubMed:10867024, ECO:0000269|PubMed:11178955, ECO:0000269|PubMed:11390655, ECO:0000269|PubMed:12807903, ECO:0000269|PubMed:15534001, ECO:0000269|PubMed:15746097, ECO:0000269|PubMed:16251361, ECO:0000269|PubMed:16778220, ECO:0000269|PubMed:16837552, ECO:0000269|PubMed:17486069, ECO:0000269|PubMed:17638867, ECO:0000269|PubMed:19098003, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:8383326, ECO:0000269|PubMed:8617750, ECO:0000269|PubMed:9135143, ECO:0000269|PubMed:9168115, ECO:0000269|PubMed:9334263}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528718_985648.66666666666661309.0DomainProtein kinase
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528718_985638.66666666666661299.0DomainProtein kinase
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527718_985648.66666666666661293.0DomainProtein kinase
TgeneERBB4chr2:210993755chr2:212495319ENST0000034278815281032_1035648.66666666666661309.0MotifNote=PPxY motif 1
TgeneERBB4chr2:210993755chr2:212495319ENST0000034278815281053_1056648.66666666666661309.0MotifNote=PPxY motif 2
TgeneERBB4chr2:210993755chr2:212495319ENST0000034278815281298_1301648.66666666666661309.0MotifNote=PPxY motif 3
TgeneERBB4chr2:210993755chr2:212495319ENST0000034278815281306_1308648.66666666666661309.0MotifNote=PDZ-binding
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528676_684648.66666666666661309.0MotifNote=Nuclear localization signal
TgeneERBB4chr2:210993755chr2:212495319ENST0000040259715281032_1035638.66666666666661299.0MotifNote=PPxY motif 1
TgeneERBB4chr2:210993755chr2:212495319ENST0000040259715281053_1056638.66666666666661299.0MotifNote=PPxY motif 2
TgeneERBB4chr2:210993755chr2:212495319ENST0000040259715281298_1301638.66666666666661299.0MotifNote=PPxY motif 3
TgeneERBB4chr2:210993755chr2:212495319ENST0000040259715281306_1308638.66666666666661299.0MotifNote=PDZ-binding
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528676_684638.66666666666661299.0MotifNote=Nuclear localization signal
TgeneERBB4chr2:210993755chr2:212495319ENST0000043644315271032_1035648.66666666666661293.0MotifNote=PPxY motif 1
TgeneERBB4chr2:210993755chr2:212495319ENST0000043644315271053_1056648.66666666666661293.0MotifNote=PPxY motif 2
TgeneERBB4chr2:210993755chr2:212495319ENST0000043644315271298_1301648.66666666666661293.0MotifNote=PPxY motif 3
TgeneERBB4chr2:210993755chr2:212495319ENST0000043644315271306_1308648.66666666666661293.0MotifNote=PDZ-binding
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527676_684648.66666666666661293.0MotifNote=Nuclear localization signal
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528724_732648.66666666666661309.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528797_799648.66666666666661309.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528843_848648.66666666666661309.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528724_732638.66666666666661299.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528797_799638.66666666666661299.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528843_848638.66666666666661299.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527724_732648.66666666666661293.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527797_799648.66666666666661293.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527843_848648.66666666666661293.0Nucleotide bindingATP
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528676_1308648.66666666666661309.0Topological domainCytoplasmic
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528676_1308638.66666666666661299.0Topological domainCytoplasmic
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527676_1308648.66666666666661293.0Topological domainCytoplasmic
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528652_675648.66666666666661309.0TransmembraneHelical
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528652_675638.66666666666661299.0TransmembraneHelical
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527652_675648.66666666666661293.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528186_334648.66666666666661309.0Compositional biasNote=Cys-rich
TgeneERBB4chr2:210993755chr2:212495319ENST000003427881528496_633648.66666666666661309.0Compositional biasNote=Cys-rich
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528186_334638.66666666666661299.0Compositional biasNote=Cys-rich
TgeneERBB4chr2:210993755chr2:212495319ENST000004025971528496_633638.66666666666661299.0Compositional biasNote=Cys-rich
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527186_334648.66666666666661293.0Compositional biasNote=Cys-rich
TgeneERBB4chr2:210993755chr2:212495319ENST000004364431527496_633648.66666666666661293.0Compositional biasNote=Cys-rich
TgeneERBB4chr2:210993755chr2:212495319ENST00000342788152826_651648.66666666666661309.0Topological domainExtracellular
TgeneERBB4chr2:210993755chr2:212495319ENST00000402597152826_651638.66666666666661299.0Topological domainExtracellular
TgeneERBB4chr2:210993755chr2:212495319ENST00000436443152726_651648.66666666666661293.0Topological domainExtracellular


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KANSL1L
ERBB4all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to KANSL1L-ERBB4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to KANSL1L-ERBB4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneERBB4C0005586Bipolar Disorder5PSYGENET
TgeneERBB4C0036341Schizophrenia4PSYGENET
TgeneERBB4C0004238Atrial Fibrillation2CTD_human
TgeneERBB4C0235480Paroxysmal atrial fibrillation2CTD_human
TgeneERBB4C2585653Persistent atrial fibrillation2CTD_human
TgeneERBB4C3468561familial atrial fibrillation2CTD_human
TgeneERBB4C0002736Amyotrophic Lateral Sclerosis1ORPHANET
TgeneERBB4C0007114Malignant neoplasm of skin1CTD_human
TgeneERBB4C0016978gallbladder neoplasm1CTD_human
TgeneERBB4C0025202melanoma1CGI;CTD_human
TgeneERBB4C0037286Skin Neoplasms1CTD_human
TgeneERBB4C0153452Malignant neoplasm of gallbladder1CTD_human
TgeneERBB4C3715155AMYOTROPHIC LATERAL SCLEROSIS 191CTD_human;GENOMICS_ENGLAND;UNIPROT