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ACIN1 (apoptotic chromatin condensation inducer 1)

Identity

Alias_namesACINUS
apoptotic chromatin condensation inducer in the nucleus
Alias_symbol (synonym)KIAA0670
fSAP152
Other aliasACN
HGNC (Hugo) ACIN1
LocusID (NCBI) 22985
Atlas_Id 47659
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23527774 and ends at 23564823 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACIN1 (14q11.2) / ACIN1 (14q11.2)ACIN1 (14q11.2) / DTWD2 (5q23.1)ACIN1 (14q11.2) / EFS (14q11.2)
ACIN1 (14q11.2) / NUTM1 (15q14)ACIN1 (14q11.2) / PTPRN2 (7q36.3)ACIN1 (14q11.2) / RIN3 (14q32.12)
ADAM12 (10q26.2) / ACIN1 (14q11.2)BTRC (10q24.32) / ACIN1 (14q11.2)NSMCE2 (8q24.13) / ACIN1 (14q11.2)
RPL8 (8q24.3) / ACIN1 (14q11.2)

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)ACIN1   17066
Cards
Entrez_Gene (NCBI)ACIN1  22985  apoptotic chromatin condensation inducer 1
AliasesACINUS; ACN; fSAP152
GeneCards (Weizmann)ACIN1
Ensembl hg19 (Hinxton)ENSG00000100813 [Gene_View]  chr14:23527774-23564823 [Contig_View]  ACIN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100813 [Gene_View]  chr14:23527774-23564823 [Contig_View]  ACIN1 [Vega]
ICGC DataPortalENSG00000100813
TCGA cBioPortalACIN1
AceView (NCBI)ACIN1
Genatlas (Paris)ACIN1
WikiGenes22985
SOURCE (Princeton)ACIN1
Genetics Home Reference (NIH)ACIN1
Genomic and cartography
GoldenPath hg19 (UCSC)ACIN1  -     chr14:23527774-23564823 -  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACIN1  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblACIN1 - 14q11.2 [CytoView hg19]  ACIN1 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIACIN1 [Mapview hg19]  ACIN1 [Mapview hg38]
OMIM604562   
Gene and transcription
Genbank (Entrez)AB014570 AF124726 AF124727 AF124728 AK299034
RefSeq transcript (Entrez)NM_001164814 NM_001164815 NM_001164816 NM_001164817 NM_014977
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_030461 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)ACIN1
Cluster EST : UnigeneHs.124490 [ NCBI ]
CGAP (NCI)Hs.124490
Alternative Splicing GalleryENSG00000100813
Gene ExpressionACIN1 [ NCBI-GEO ]   ACIN1 [ EBI - ARRAY_EXPRESS ]   ACIN1 [ SEEK ]   ACIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22985
GTEX Portal (Tissue expression)ACIN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKV3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKV3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKV3
Splice isoforms : SwissVarQ9UKV3
PhosPhoSitePlusQ9UKV3
Domaine pattern : Prosite (Expaxy)SAP (PS50800)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom    RSB_motif    SAP_dom   
Domain families : Pfam (Sanger)RSB_motif (PF16294)    SAP (PF02037)   
Domain families : Pfam (NCBI)pfam16294    pfam02037   
Domain families : Smart (EMBL)RRM (SM00360)  SAP (SM00513)  
Conserved Domain (NCBI)ACIN1
DMDM Disease mutations22985
Blocks (Seattle)ACIN1
SuperfamilyQ9UKV3
Human Protein AtlasENSG00000100813
Peptide AtlasQ9UKV3
HPRD05191
IPIIPI00007334   IPI00215975   IPI00297991   IPI01024824   IPI00946415   IPI01026415   IPI00911038   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKV3
IntAct (EBI)Q9UKV3
FunCoupENSG00000100813
BioGRIDACIN1
STRING (EMBL)ACIN1
ZODIACACIN1
Ontologies - Pathways
QuickGOQ9UKV3
Ontology : AmiGOnucleotide binding  positive regulation of defense response to virus by host  nucleic acid binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytoplasm  cytosol  plasma membrane  mRNA processing  cellular component disassembly involved in execution phase of apoptosis  RNA splicing  nuclear speck  ATPase activity  enzyme binding  erythrocyte differentiation  apoptotic chromosome condensation  exon-exon junction complex  positive regulation of apoptotic process  poly(A) RNA binding  positive regulation of monocyte differentiation  negative regulation of mRNA splicing, via spliceosome  ASAP complex  mitophagy in response to mitochondrial depolarization  xenophagy  
Ontology : EGO-EBInucleotide binding  positive regulation of defense response to virus by host  nucleic acid binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytoplasm  cytosol  plasma membrane  mRNA processing  cellular component disassembly involved in execution phase of apoptosis  RNA splicing  nuclear speck  ATPase activity  enzyme binding  erythrocyte differentiation  apoptotic chromosome condensation  exon-exon junction complex  positive regulation of apoptotic process  poly(A) RNA binding  positive regulation of monocyte differentiation  negative regulation of mRNA splicing, via spliceosome  ASAP complex  mitophagy in response to mitochondrial depolarization  xenophagy  
Pathways : KEGGRNA transport    mRNA surveillance pathway    Spliceosome   
NDEx NetworkACIN1
Atlas of Cancer Signalling NetworkACIN1
Wikipedia pathwaysACIN1
Orthology - Evolution
OrthoDB22985
GeneTree (enSembl)ENSG00000100813
Phylogenetic Trees/Animal Genes : TreeFamACIN1
HOVERGENQ9UKV3
HOGENOMQ9UKV3
Homologs : HomoloGeneACIN1
Homology/Alignments : Family Browser (UCSC)ACIN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACIN1
dbVarACIN1
ClinVarACIN1
1000_GenomesACIN1 
Exome Variant ServerACIN1
ExAC (Exome Aggregation Consortium)ACIN1 (select the gene name)
Genetic variants : HAPMAP22985
Genomic Variants (DGV)ACIN1 [DGVbeta]
DECIPHER (Syndromes)14:23527774-23564823  ENSG00000100813
CONAN: Copy Number AnalysisACIN1 
Mutations
ICGC Data PortalACIN1 
TCGA Data PortalACIN1 
Broad Tumor PortalACIN1
OASIS PortalACIN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACIN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACIN1
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 ACIN1
DgiDB (Drug Gene Interaction Database)ACIN1
DoCM (Curated mutations)ACIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACIN1 (select a term)
intoGenACIN1
Cancer3DACIN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604562   
Orphanet
MedgenACIN1
Genetic Testing Registry ACIN1
NextProtQ9UKV3 [Medical]
TSGene22985
GENETestsACIN1
Huge Navigator ACIN1 [HugePedia]
snp3D : Map Gene to Disease22985
BioCentury BCIQACIN1
ClinGenACIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22985
Chemical/Pharm GKB GenePA134912489
Clinical trialACIN1
Miscellaneous
canSAR (ICR)ACIN1 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACIN1
EVEXACIN1
GoPubMedACIN1
iHOPACIN1
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 12:54:36 CET 2017

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