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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: 19118

FusionGeneSummary for KMT2C_CNTNAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2C_CNTNAP2
Fusion gene ID: 19118
HgeneTgene
Gene symbol

KMT2C

CNTNAP2

Gene ID

58508

26047

Gene namelysine methyltransferase 2Ccontactin associated protein like 2
SynonymsHALR|KLEFS2|MLL3AUTS15|CASPR2|CDFE|NRXN4|PTHSL1
Cytomap

7q36.1

7q35-q36.1

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase 2CALR-like proteinhistone-lysine N-methyltransferase MLL3histone-lysine N-methyltransferase, H3 lysine-4 specifichomologous to ALR proteinlysine (K)-specific methyltransferase 2Cmyeloid/lymphoid or mixed-lineage lecontactin-associated protein-like 2cell recognition molecule Caspr2homolog of Drosophila neurexin IV
Modification date2018052320180519
UniProtAcc

Q8NEZ4

Q9UHC6

Ensembl transtripts involved in fusion geneENST00000262189, ENST00000355193, 
ENST00000485655, ENST00000485241, 
ENST00000361727, ENST00000538075, 
ENST00000463592, 
Fusion gene scores* DoF score18 X 16 X 10=28808 X 8 X 7=448
# samples 229
** MAII scorelog2(22/2880*10)=-3.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KMT2C [Title/Abstract] AND CNTNAP2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their 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

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
TCGALDBRCATCGA-BH-A0DI-01AKMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
TCGALDBRCATCGA-C8-A273-01AKMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
* 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
Frame-shiftENST00000262189ENST00000361727KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
5CDS-intronENST00000262189ENST00000538075KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
5CDS-intronENST00000262189ENST00000463592KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
Frame-shiftENST00000355193ENST00000361727KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
5CDS-intronENST00000355193ENST00000538075KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
5CDS-intronENST00000355193ENST00000463592KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
intron-3CDSENST00000485655ENST00000361727KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
intron-intronENST00000485655ENST00000538075KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
intron-intronENST00000485655ENST00000463592KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
intron-3CDSENST00000485241ENST00000361727KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
intron-intronENST00000485241ENST00000538075KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
intron-intronENST00000485241ENST00000463592KMT2Cchr7

152027686

-CNTNAP2chr7

146740999

+
Frame-shiftENST00000262189ENST00000361727KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
5CDS-intronENST00000262189ENST00000538075KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
5CDS-intronENST00000262189ENST00000463592KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
Frame-shiftENST00000355193ENST00000361727KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
5CDS-intronENST00000355193ENST00000538075KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
5CDS-intronENST00000355193ENST00000463592KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
intron-3CDSENST00000485655ENST00000361727KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
intron-intronENST00000485655ENST00000538075KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
intron-intronENST00000485655ENST00000463592KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
intron-3CDSENST00000485241ENST00000361727KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
intron-intronENST00000485241ENST00000538075KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+
intron-intronENST00000485241ENST00000463592KMT2Cchr7

152132711

-CNTNAP2chr7

146471363

+

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FusionProtFeatures for KMT2C_CNTNAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KMT2C

Q8NEZ4

CNTNAP2

Q9UHC6

Histone methyltransferase. Methylates 'Lys-4' of histoneH3. H3 'Lys-4' methylation represents a specific tag forepigenetic transcriptional activation. Central component of theMLL2/3 complex, a coactivator complex of nuclear receptors,involved in transcriptional coactivation. KMT2C/MLL3 may be acatalytic subunit of this complex. May be involved inleukemogenesis and developmental disorder.{ECO:0000269|PubMed:17500065}. Required, with CNTNAP1, for radial and longitudinalorganization of myelinated axons. Plays a role in the formation offunctional distinct domains critical for saltatory conduction ofnerve impulses in myelinated nerve fibers. Demarcates thejuxtaparanodal region of the axo-glial junction.{ECO:0000250|UniProtKB:Q9CPW0}.

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 KMT2C_CNTNAP2


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 KMT2C_CNTNAP2


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
KMT2CAK1, NCOA6, ASH2L, RBBP5, HIST2H3C, ASCL2, KDM6A, SMARCB1, MAPK14, JUN, PAXIP1, H3F3A, PAGR1, WDR82, CDC73, TSC22D1, KDM4B, ELAVL1, WDR5, HIST1H3A, APPL2, ERP44, HIST3H3, DPY30, MTNR1B, FOXA1, TRIM25CNTNAP2CNTN2, EPB41L3, CASK, CTR9, ZMIZ1, MACF1, IQCB1, MEOX2


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 KMT2C_CNTNAP2


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 KMT2C_CNTNAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2CC0001418Adenocarcinoma1CTD_human
HgeneKMT2CC0005695Bladder Neoplasm1CTD_human
HgeneKMT2CC0007138Carcinoma, Transitional Cell1CTD_human
HgeneKMT2CC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneKMT2CC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneKMT2CC0023897Liver Diseases, Parasitic1CTD_human
HgeneKMT2CC0036920Sezary Syndrome1CTD_human
HgeneKMT2CC0038356Stomach Neoplasms1CTD_human
HgeneKMT2CC0206698Cholangiocarcinoma1CTD_human
HgeneKMT2CC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneKMT2CC2239176Liver carcinoma1CTD_human
TgeneCNTNAP2C0004352Autistic Disorder4CTD_human
TgeneCNTNAP2C1510586Autism Spectrum Disorders4CTD_human
TgeneCNTNAP2C0023014Language Development Disorders3CTD_human
TgeneCNTNAP2C0014544Epilepsy2CTD_human;HPO
TgeneCNTNAP2C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneCNTNAP2C0005586Bipolar Disorder1PSYGENET
TgeneCNTNAP2C0036341Schizophrenia1CTD_human
TgeneCNTNAP2C0038506Stuttering1CTD_human
TgeneCNTNAP2C0041696Unipolar Depression1PSYGENET
TgeneCNTNAP2C0149925Small cell carcinoma of lung1CTD_human
TgeneCNTNAP2C0424295Hyperactive behavior1CTD_human;HPO
TgeneCNTNAP2C1269683Major Depressive Disorder1PSYGENET
TgeneCNTNAP2C1970431PITT-HOPKINS SYNDROME1CTD_human