Atlas of Genetics and Cytogenetics in Oncology and Haematology


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LRCH1 (leucine-rich repeats and calponin homology (CH) domain containing 1)

Identity

Alias_namesCHDC1
calponin homology (CH) domain containing 1
leucine-rich repeats and calponin homology (CH) domain containing 1
Alias_symbol (synonym)KIAA1016
Other aliasNP81
HGNC (Hugo) LRCH1
LocusID (NCBI) 23143
Atlas_Id 68572
Location 13q14.13  [Link to chromosome band 13q14]
Location_base_pair Starts at 47127296 and ends at 47319036 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LRCH1 (13q14.13) / GTF2F2 (13q14.12)LRCH1 (13q14.13) / LRCH1 (13q14.13)LRCH1 (13q14.13) / NADSYN1 (11q13.4)
LRCH1 (13q14.13) / PIK3R1 (5q13.1)LRCH1 (13q14.13) / RNPEP (1q32.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LRCH1   20309
Cards
Entrez_Gene (NCBI)LRCH1  23143  leucine-rich repeats and calponin homology (CH) domain containing 1
AliasesCHDC1; NP81
GeneCards (Weizmann)LRCH1
Ensembl hg19 (Hinxton)ENSG00000136141 [Gene_View]  chr13:47127296-47319036 [Contig_View]  LRCH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136141 [Gene_View]  chr13:47127296-47319036 [Contig_View]  LRCH1 [Vega]
ICGC DataPortalENSG00000136141
TCGA cBioPortalLRCH1
AceView (NCBI)LRCH1
Genatlas (Paris)LRCH1
WikiGenes23143
SOURCE (Princeton)LRCH1
Genetics Home Reference (NIH)LRCH1
Genomic and cartography
GoldenPath hg19 (UCSC)LRCH1  -     chr13:47127296-47319036 +  13q14.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LRCH1  -     13q14.13   [Description]    (hg38-Dec_2013)
EnsemblLRCH1 - 13q14.13 [CytoView hg19]  LRCH1 - 13q14.13 [CytoView hg38]
Mapping of homologs : NCBILRCH1 [Mapview hg19]  LRCH1 [Mapview hg38]
OMIM610368   
Gene and transcription
Genbank (Entrez)AB023233 AK123654 AK292898 AK309937 AL530544
RefSeq transcript (Entrez)NM_001164211 NM_001164213 NM_015116
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_021335 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)LRCH1
Cluster EST : UnigeneHs.507971 [ NCBI ]
CGAP (NCI)Hs.507971
Alternative Splicing GalleryENSG00000136141
Gene ExpressionLRCH1 [ NCBI-GEO ]   LRCH1 [ EBI - ARRAY_EXPRESS ]   LRCH1 [ SEEK ]   LRCH1 [ MEM ]
Gene Expression Viewer (FireBrowse)LRCH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23143
GTEX Portal (Tissue expression)LRCH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2L9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2L9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2L9
Splice isoforms : SwissVarQ9Y2L9
PhosPhoSitePlusQ9Y2L9
Domaine pattern : Prosite (Expaxy)CH (PS50021)    LRR (PS51450)   
Domains : Interpro (EBI)CH-domain    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp   
Domain families : Pfam (Sanger)CH (PF00307)    LRR_8 (PF13855)   
Domain families : Pfam (NCBI)pfam00307    pfam13855   
Domain families : Smart (EMBL)CH (SM00033)  LRR_TYP (SM00369)  
Conserved Domain (NCBI)LRCH1
DMDM Disease mutations23143
Blocks (Seattle)LRCH1
SuperfamilyQ9Y2L9
Human Protein AtlasENSG00000136141
Peptide AtlasQ9Y2L9
HPRD14307
IPIIPI00783220   IPI00376144   IPI00413663   IPI00947039   IPI00946235   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2L9
IntAct (EBI)Q9Y2L9
FunCoupENSG00000136141
BioGRIDLRCH1
STRING (EMBL)LRCH1
ZODIACLRCH1
Ontologies - Pathways
QuickGOQ9Y2L9
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkLRCH1
Atlas of Cancer Signalling NetworkLRCH1
Wikipedia pathwaysLRCH1
Orthology - Evolution
OrthoDB23143
GeneTree (enSembl)ENSG00000136141
Phylogenetic Trees/Animal Genes : TreeFamLRCH1
HOVERGENQ9Y2L9
HOGENOMQ9Y2L9
Homologs : HomoloGeneLRCH1
Homology/Alignments : Family Browser (UCSC)LRCH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRCH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRCH1
dbVarLRCH1
ClinVarLRCH1
1000_GenomesLRCH1 
Exome Variant ServerLRCH1
ExAC (Exome Aggregation Consortium)LRCH1 (select the gene name)
Genetic variants : HAPMAP23143
Genomic Variants (DGV)LRCH1 [DGVbeta]
DECIPHER (Syndromes)13:47127296-47319036  ENSG00000136141
CONAN: Copy Number AnalysisLRCH1 
Mutations
ICGC Data PortalLRCH1 
TCGA Data PortalLRCH1 
Broad Tumor PortalLRCH1
OASIS PortalLRCH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRCH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRCH1
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRCH1
DgiDB (Drug Gene Interaction Database)LRCH1
DoCM (Curated mutations)LRCH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRCH1 (select a term)
intoGenLRCH1
Cancer3DLRCH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610368   
Orphanet
MedgenLRCH1
Genetic Testing Registry LRCH1
NextProtQ9Y2L9 [Medical]
TSGene23143
GENETestsLRCH1
Huge Navigator LRCH1 [HugePedia]
snp3D : Map Gene to Disease23143
BioCentury BCIQLRCH1
ClinGenLRCH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23143
Chemical/Pharm GKB GenePA134898200
Clinical trialLRCH1
Miscellaneous
canSAR (ICR)LRCH1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRCH1
EVEXLRCH1
GoPubMedLRCH1
iHOPLRCH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:26:55 CET 2017

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