Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AMDHD1 (amidohydrolase domain containing 1)

Identity

Alias_symbol (synonym)MGC35366
Other aliasHMFT1272
HGNC (Hugo) AMDHD1
LocusID (NCBI) 144193
Atlas_Id 60269
Location 12q23.1  [Link to chromosome band 12q23]
Location_base_pair Starts at 95943293 and ends at 95968592 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELK3 (12q23.1) / AMDHD1 (12q23.1)METTL25 (12q21.31) / AMDHD1 (12q23.1)PAWR (12q21.2) / AMDHD1 (12q23.1)

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)AMDHD1   28577
Cards
Entrez_Gene (NCBI)AMDHD1  144193  amidohydrolase domain containing 1
AliasesHMFT1272
GeneCards (Weizmann)AMDHD1
Ensembl hg19 (Hinxton)ENSG00000139344 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139344 [Gene_View]  chr12:95943293-95968592 [Contig_View]  AMDHD1 [Vega]
ICGC DataPortalENSG00000139344
TCGA cBioPortalAMDHD1
AceView (NCBI)AMDHD1
Genatlas (Paris)AMDHD1
WikiGenes144193
SOURCE (Princeton)AMDHD1
Genetics Home Reference (NIH)AMDHD1
Genomic and cartography
GoldenPath hg38 (UCSC)AMDHD1  -     chr12:95943293-95968592 +  12q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMDHD1  -     12q23.1   [Description]    (hg19-Feb_2009)
EnsemblAMDHD1 - 12q23.1 [CytoView hg19]  AMDHD1 - 12q23.1 [CytoView hg38]
Mapping of homologs : NCBIAMDHD1 [Mapview hg19]  AMDHD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB075878 AK054617 AK122802 AK290828 AL833144
RefSeq transcript (Entrez)NM_152435
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AMDHD1
Cluster EST : UnigeneHs.424907 [ NCBI ]
CGAP (NCI)Hs.424907
Alternative Splicing GalleryENSG00000139344
Gene ExpressionAMDHD1 [ NCBI-GEO ]   AMDHD1 [ EBI - ARRAY_EXPRESS ]   AMDHD1 [ SEEK ]   AMDHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)AMDHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144193
GTEX Portal (Tissue expression)AMDHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96NU7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96NU7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96NU7
Splice isoforms : SwissVarQ96NU7
Catalytic activity : Enzyme3.5.2.7 [ Enzyme-Expasy ]   3.5.2.73.5.2.7 [ IntEnz-EBI ]   3.5.2.7 [ BRENDA ]   3.5.2.7 [ KEGG ]   
PhosPhoSitePlusQ96NU7
Domains : Interpro (EBI)Amidohydro-rel    HutI    Metal-dep_hydrolase_composite    Metal_Hydrolase   
Domain families : Pfam (Sanger)Amidohydro_1 (PF01979)   
Domain families : Pfam (NCBI)pfam01979   
Conserved Domain (NCBI)AMDHD1
DMDM Disease mutations144193
Blocks (Seattle)AMDHD1
SuperfamilyQ96NU7
Human Protein AtlasENSG00000139344
Peptide AtlasQ96NU7
HPRD14605
IPIIPI00043911   IPI01020832   IPI01020971   
Protein Interaction databases
DIP (DOE-UCLA)Q96NU7
IntAct (EBI)Q96NU7
FunCoupENSG00000139344
BioGRIDAMDHD1
STRING (EMBL)AMDHD1
ZODIACAMDHD1
Ontologies - Pathways
QuickGOQ96NU7
Ontology : AmiGOmolecular_function  cytosol  histidine catabolic process  hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides  histidine catabolic process to glutamate and formamide  histidine catabolic process to glutamate and formate  metal ion binding  imidazolonepropionase activity  
Ontology : EGO-EBImolecular_function  cytosol  histidine catabolic process  hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides  histidine catabolic process to glutamate and formamide  histidine catabolic process to glutamate and formate  metal ion binding  imidazolonepropionase activity  
Pathways : KEGGHistidine metabolism   
NDEx NetworkAMDHD1
Atlas of Cancer Signalling NetworkAMDHD1
Wikipedia pathwaysAMDHD1
Orthology - Evolution
OrthoDB144193
GeneTree (enSembl)ENSG00000139344
Phylogenetic Trees/Animal Genes : TreeFamAMDHD1
HOVERGENQ96NU7
HOGENOMQ96NU7
Homologs : HomoloGeneAMDHD1
Homology/Alignments : Family Browser (UCSC)AMDHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMDHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMDHD1
dbVarAMDHD1
ClinVarAMDHD1
1000_GenomesAMDHD1 
Exome Variant ServerAMDHD1
ExAC (Exome Aggregation Consortium)AMDHD1 (select the gene name)
Genetic variants : HAPMAP144193
Genomic Variants (DGV)AMDHD1 [DGVbeta]
DECIPHERAMDHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAMDHD1 
Mutations
ICGC Data PortalAMDHD1 
TCGA Data PortalAMDHD1 
Broad Tumor PortalAMDHD1
OASIS PortalAMDHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMDHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMDHD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AMDHD1
DgiDB (Drug Gene Interaction Database)AMDHD1
DoCM (Curated mutations)AMDHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMDHD1 (select a term)
intoGenAMDHD1
Cancer3DAMDHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenAMDHD1
Genetic Testing Registry AMDHD1
NextProtQ96NU7 [Medical]
TSGene144193
GENETestsAMDHD1
Target ValidationAMDHD1
Huge Navigator AMDHD1 [HugePedia]
snp3D : Map Gene to Disease144193
BioCentury BCIQAMDHD1
ClinGenAMDHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144193
Chemical/Pharm GKB GenePA143485297
Clinical trialAMDHD1
Miscellaneous
canSAR (ICR)AMDHD1 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMDHD1
EVEXAMDHD1
GoPubMedAMDHD1
iHOPAMDHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:37:57 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.