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![]() | 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:ALK-IGLL1 (FusionGDB2 ID:HG238TG3543) |
Fusion Gene Summary for ALK-IGLL1 |
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Fusion gene information | Fusion gene name: ALK-IGLL1 | Fusion gene ID: hg238tg3543 | Hgene | Tgene | Gene symbol | ALK | IGLL1 | Gene ID | 238 | 3543 |
Gene name | ALK receptor tyrosine kinase | immunoglobulin lambda like polypeptide 1 | |
Synonyms | CD246|NBLST3 | 14.1|AGM2|CD179b|IGL1|IGL5|IGLJ14.1|IGLL|IGO|IGVPB|VPREB2 | |
Cytomap | ('ALK')('IGLL1') 2p23.2-p23.1 | 22q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | ALK tyrosine kinase receptorCD246 antigenanaplastic lymphoma receptor tyrosine kinasemutant anaplastic lymphoma kinase | immunoglobulin lambda-like polypeptide 1CD179 antigen-like family member BCD179b antigenPre-B lymphocyte-specific protein-2ig lambda-5immunoglobulin omega polypeptide chainimmunoglobulin-related 14.1 proteinimmunoglobulin-related protein 14.1lambd | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | Q9UM73 | . | |
Ensembl transtripts involved in fusion gene | ENST00000389048, ENST00000431873, ENST00000498037, | ||
Fusion gene scores | * DoF score | 10 X 13 X 4=520 | 2 X 3 X 2=12 |
# samples | 10 | 2 | |
** MAII score | log2(10/520*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ALK [Title/Abstract] AND IGLL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ALK(29667291)-IGLL1(23915774), # samples:18 | ||
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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ALK | GO:0016310 | phosphorylation | 9174053 |
Hgene | ALK | GO:0046777 | protein autophosphorylation | 9174053 |
![]() * 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 |
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Fusion Gene ORF analysis for ALK-IGLL1 |
![]() * 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 |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ALK-IGLL1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ALK-IGLL1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:29667291/:23915774) - 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. |
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Hgene | Tgene |
ALK | . |
FUNCTION: Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system. Transduces signals from ligands at the cell surface, through specific activation of the mitogen-activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptor for ligands pleiotrophin (PTN), a secreted growth factor, and midkine (MDK), a PTN-related factor, thus participating in PTN and MDK signal transduction. PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation of cell proliferation. MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1), activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction. Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase. Recruitment of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival signaling of MDK. Thinness gene involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a negative regulator of white adipose tissue lipolysis and sympathetic tone to fine-tune energy homeostasis (By similarity). {ECO:0000250|UniProtKB:P97793, ECO:0000269|PubMed:11121404, ECO:0000269|PubMed:11278720, ECO:0000269|PubMed:11387242, ECO:0000269|PubMed:11809760, ECO:0000269|PubMed:12107166, ECO:0000269|PubMed:12122009, ECO:0000269|PubMed:15226403, ECO:0000269|PubMed:15908427, ECO:0000269|PubMed:16317043, ECO:0000269|PubMed:16878150, ECO:0000269|PubMed:17274988}. | 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 |
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Fusion Gene Sequence for ALK-IGLL1 |
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Fusion Gene PPI Analysis for ALK-IGLL1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ALK-IGLL1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ALK | Q9UM73 | DB08865 | Crizotinib | Inhibitor | Small molecule | Approved |
Hgene | ALK | Q9UM73 | DB09063 | Ceritinib | Antagonist | Small molecule | Approved |
Hgene | ALK | Q9UM73 | DB11363 | Alectinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | ALK | Q9UM73 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | ALK | Q9UM73 | DB12130 | Lorlatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | ALK | Q9UM73 | DB12141 | Gilteritinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | ALK | Q9UM73 | DB12267 | Brigatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for ALK-IGLL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ALK | C0007131 | Non-Small Cell Lung Carcinoma | 28 | CGI;CTD_human |
Hgene | ALK | C0027819 | Neuroblastoma | 13 | CGI;CTD_human;ORPHANET |
Hgene | ALK | C0152013 | Adenocarcinoma of lung (disorder) | 8 | CGI;CTD_human |
Hgene | ALK | C2751681 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 | 8 | CLINGEN;UNIPROT |
Hgene | ALK | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | 6 | CGI;CTD_human |
Hgene | ALK | C0334121 | Inflammatory Myofibroblastic Tumor | 4 | CGI;CTD_human;ORPHANET |
Hgene | ALK | C0018199 | Granuloma, Plasma Cell | 3 | CTD_human |
Hgene | ALK | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
Hgene | ALK | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
Hgene | ALK | C0238463 | Papillary thyroid carcinoma | 2 | ORPHANET |
Hgene | ALK | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | ALK | C0006118 | Brain Neoplasms | 1 | CGI;CTD_human |
Hgene | ALK | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | ALK | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | ALK | C0011570 | Mental Depression | 1 | PSYGENET |
Hgene | ALK | C0011581 | Depressive disorder | 1 | PSYGENET |
Hgene | ALK | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
Hgene | ALK | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ALK | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
Hgene | ALK | C0085269 | Plasma Cell Granuloma, Pulmonary | 1 | CTD_human |
Hgene | ALK | C0153633 | Malignant neoplasm of brain | 1 | CGI;CTD_human |
Hgene | ALK | C0278601 | Inflammatory Breast Carcinoma | 1 | CTD_human |
Hgene | ALK | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Hgene | ALK | C0496899 | Benign neoplasm of brain, unspecified | 1 | CTD_human |
Hgene | ALK | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | ALK | C0750974 | Brain Tumor, Primary | 1 | CTD_human |
Hgene | ALK | C0750977 | Recurrent Brain Neoplasm | 1 | CTD_human |
Hgene | ALK | C0750979 | Primary malignant neoplasm of brain | 1 | CTD_human |
Hgene | ALK | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | ALK | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Hgene | ALK | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Hgene | ALK | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Hgene | ALK | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
Hgene | ALK | C1332079 | Anaplastic Large Cell Lymphoma, ALK-Positive | 1 | ORPHANET |
Hgene | ALK | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | ALK | C1527390 | Neoplasms, Intracranial | 1 | CTD_human |
Hgene | ALK | C2931189 | Neural crest tumor | 1 | ORPHANET |
Hgene | ALK | C3899155 | hereditary neuroblastoma | 1 | GENOMICS_ENGLAND |
Hgene | ALK | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C3150750 | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0001768 | Agammaglobulinemia | 1 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C1832241 | Agammaglobulinemia, non-Bruton type | 1 | ORPHANET |