![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:KALRN-APC (FusionGDB2 ID:HG8997TG324) |
Fusion Gene Summary for KALRN-APC |
![]() |
Fusion gene information | Fusion gene name: KALRN-APC | Fusion gene ID: hg8997tg324 | Hgene | Tgene | Gene symbol | KALRN | APC | Gene ID | 8997 | 324 |
Gene name | kalirin RhoGEF kinase | APC regulator of WNT signaling pathway | |
Synonyms | ARHGEF24|CHD5|CHDS5|DUET|DUO|HAPIP|TRAD | BTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46 | |
Cytomap | ('KALRN')('APC') 3q21.1-q21.2 | 5q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | kalirinhuntingtin-associated protein interacting protein (duo)serine/threonine-protein kinase with Dbl- and pleckstrin homology domain | adenomatous polyposis coli proteinAPC, WNT signaling pathway regulatorWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5epididymis secretory sperm binding proteinprote | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000240874, ENST00000291478, ENST00000360013, ENST00000393496, ENST00000428018, ENST00000459915, ENST00000460856, ENST00000462213, ENST00000477496, | ||
Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 7 X 7 X 1=49 |
# samples | 6 | 7 | |
** MAII score | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/49*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: KALRN [Title/Abstract] AND APC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | KALRN(123949701)-APC(112179088), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | APC | GO:0006974 | cellular response to DNA damage stimulus | 14728717 |
Tgene | APC | GO:0007026 | negative regulation of microtubule depolymerization | 11166179 |
Tgene | APC | GO:0007050 | cell cycle arrest | 8521819 |
Tgene | APC | GO:0008285 | negative regulation of cell proliferation | 8521819 |
Tgene | APC | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 8521819 |
Tgene | APC | GO:0065003 | protein-containing complex assembly | 16188939 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Top |
Fusion Gene ORF analysis for KALRN-APC |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for KALRN-APC |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for KALRN-APC |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:123949701/:112179088) - 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. |
![]() |
![]() |
Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
Fusion Gene Sequence for KALRN-APC |
![]() |
Top |
Fusion Gene PPI Analysis for KALRN-APC |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for KALRN-APC |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for KALRN-APC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KALRN | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | KALRN | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | C0032580 | Adenomatous Polyposis Coli | 24 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C2713442 | Polyposis, Adenomatous Intestinal | 11 | CTD_human | |
Tgene | C2713443 | Familial Intestinal Polyposis | 11 | CTD_human | |
Tgene | C0007102 | Malignant tumor of colon | 7 | CTD_human | |
Tgene | C0009375 | Colonic Neoplasms | 7 | CTD_human | |
Tgene | C0009402 | Colorectal Carcinoma | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0009404 | Colorectal Neoplasms | 7 | CTD_human;UNIPROT | |
Tgene | C0021841 | Intestinal Neoplasms | 6 | CTD_human | |
Tgene | C0346627 | Intestinal Cancer | 6 | CTD_human | |
Tgene | C0001430 | Adenoma | 5 | CTD_human | |
Tgene | C0205646 | Adenoma, Basal Cell | 5 | CTD_human | |
Tgene | C0205647 | Follicular adenoma | 5 | CTD_human | |
Tgene | C0205648 | Adenoma, Microcystic | 5 | CTD_human | |
Tgene | C0205649 | Adenoma, Monomorphic | 5 | CTD_human | |
Tgene | C0205650 | Papillary adenoma | 5 | CTD_human | |
Tgene | C0205651 | Adenoma, Trabecular | 5 | CTD_human | |
Tgene | C0021846 | Intestinal Polyps | 3 | CTD_human | |
Tgene | C0001418 | Adenocarcinoma | 2 | CTD_human | |
Tgene | C0004352 | Autistic Disorder | 2 | CTD_human | |
Tgene | C0007113 | Rectal Carcinoma | 2 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human | |
Tgene | C0025149 | Medulloblastoma | 2 | CTD_human;UNIPROT | |
Tgene | C0033578 | Prostatic Neoplasms | 2 | CTD_human | |
Tgene | C0034885 | Rectal Neoplasms | 2 | CTD_human | |
Tgene | C0205641 | Adenocarcinoma, Basal Cell | 2 | CTD_human | |
Tgene | C0205642 | Adenocarcinoma, Oxyphilic | 2 | CTD_human | |
Tgene | C0205643 | Carcinoma, Cribriform | 2 | CTD_human | |
Tgene | C0205644 | Carcinoma, Granular Cell | 2 | CTD_human | |
Tgene | C0205645 | Adenocarcinoma, Tubular | 2 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 2 | CTD_human | |
Tgene | C0002886 | Anemia, Macrocytic | 1 | CTD_human | |
Tgene | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human | |
Tgene | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human | |
Tgene | C0015393 | Eye Abnormalities | 1 | CTD_human | |
Tgene | C0017181 | Gastrointestinal Hemorrhage | 1 | CTD_human | |
Tgene | C0017185 | Gastrointestinal Neoplasms | 1 | CTD_human | |
Tgene | C0017636 | Glioblastoma | 1 | CTD_human | |
Tgene | C0018932 | Hematochezia | 1 | CTD_human | |
Tgene | C0020473 | Hyperlipidemia | 1 | CTD_human | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0021390 | Inflammatory Bowel Diseases | 1 | CTD_human | |
Tgene | C0023518 | Leukocytosis | 1 | CTD_human | |
Tgene | C0023903 | Liver neoplasms | 1 | CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0025500 | Mesothelioma | 1 | CTD_human | |
Tgene | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
Tgene | C0038002 | Splenomegaly | 1 | CTD_human | |
Tgene | C0079218 | Fibromatosis, Aggressive | 1 | CGI;CTD_human;ORPHANET | |
Tgene | C0151857 | Pleocytosis | 1 | CTD_human | |
Tgene | C0205833 | Medullomyoblastoma | 1 | CTD_human | |
Tgene | C0206646 | Fibromatosis, Abdominal | 1 | CTD_human | |
Tgene | C0206677 | Adenomatous Polyps | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human | |
Tgene | C0265325 | Turcot syndrome (disorder) | 1 | CTD_human | |
Tgene | C0278510 | Childhood Medulloblastoma | 1 | CTD_human | |
Tgene | C0278876 | Adult Medulloblastoma | 1 | CTD_human | |
Tgene | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human | |
Tgene | C0345904 | Malignant neoplasm of liver | 1 | CTD_human | |
Tgene | C0685938 | Malignant neoplasm of gastrointestinal tract | 1 | CTD_human | |
Tgene | C0751291 | Desmoplastic Medulloblastoma | 1 | CTD_human | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C1275668 | Melanotic medulloblastoma | 1 | CTD_human | |
Tgene | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 1 | CTD_human | |
Tgene | C1621958 | Glioblastoma Multiforme | 1 | CTD_human | |
Tgene | C1706412 | Lipidemias | 1 | CTD_human | |
Tgene | C1859309 | Syndactyly Cenani Lenz type | 1 | ORPHANET | |
Tgene | C1879526 | Aberrant Crypt Foci | 1 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human | |
Tgene | C4552100 | Lynch Syndrome | 1 | CTD_human |