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ACIN1 (apoptotic chromatin condensation inducer 1)

Identity

Alias (NCBI)ACINUS
ACN
fSAP152
HGNC (Hugo) ACIN1
HGNC Alias symbKIAA0670
fSAP152
HGNC Alias namefunctional spliceosome-associated protein 152
HGNC Previous nameACINUS
HGNC Previous nameapoptotic chromatin condensation inducer in the nucleus
LocusID (NCBI) 22985
Atlas_Id 47659
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23058565 and ends at 23095614 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;15)(q11;q14) ACIN1::NUTM1


External links

 

Nomenclature
HGNC (Hugo)ACIN1   17066
Cards
Entrez_Gene (NCBI)ACIN1    apoptotic chromatin condensation inducer 1
AliasesACINUS; ACN; fSAP152
GeneCards (Weizmann)ACIN1
Ensembl hg19 (Hinxton)ENSG00000100813 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100813 [Gene_View]  ENSG00000100813 [Sequence]  chr14:23058565-23095614 [Contig_View]  ACIN1 [Vega]
ICGC DataPortalENSG00000100813
TCGA cBioPortalACIN1
AceView (NCBI)ACIN1
Genatlas (Paris)ACIN1
SOURCE (Princeton)ACIN1
Genetics Home Reference (NIH)ACIN1
Genomic and cartography
GoldenPath hg38 (UCSC)ACIN1  -     chr14:23058565-23095614 -  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACIN1  -     14q11.2   [Description]    (hg19-Feb_2009)
GoldenPathACIN1 - 14q11.2 [CytoView hg19]  ACIN1 - 14q11.2 [CytoView hg38]
ImmunoBaseENSG00000100813
Genome Data Viewer NCBIACIN1 [Mapview hg19]  
OMIM604562   
Gene and transcription
Genbank (Entrez)AB014570 AF124726 AF124727 AF124728 AK299034
RefSeq transcript (Entrez)NM_001164814 NM_001164815 NM_001164816 NM_001164817 NM_001386863 NM_014977
Consensus coding sequences : CCDS (NCBI)ACIN1
Gene ExpressionACIN1 [ NCBI-GEO ]   ACIN1 [ EBI - ARRAY_EXPRESS ]   ACIN1 [ SEEK ]   ACIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACIN1 [ Firebrowse - Broad ]
GenevisibleExpression of ACIN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22985
GTEX Portal (Tissue expression)ACIN1
Human Protein AtlasENSG00000100813-ACIN1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UKV3
Domaine pattern : Prosite (Expaxy)SAP (PS50800)   
Domains : Interpro (EBI)Acinus_RRM    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RSB_motif    SAP_dom    SAP_dom_sf   
Domain families : Pfam (Sanger)RSB_motif (PF16294)    SAP (PF02037)   
Domain families : Pfam (NCBI)pfam16294    pfam02037   
Domain families : Smart (EMBL)SAP (SM00513)  
Conserved Domain (NCBI)ACIN1
PDB (RSDB)6G6S   
PDB Europe6G6S   
PDB (PDBSum)6G6S   
PDB (IMB)6G6S   
Structural Biology KnowledgeBase6G6S   
SCOP (Structural Classification of Proteins)6G6S   
CATH (Classification of proteins structures)6G6S   
SuperfamilyQ9UKV3
AlphaFold pdb e-kbQ9UKV3   
Human Protein Atlas [tissue]ENSG00000100813-ACIN1 [tissue]
HPRD05191
Protein Interaction databases
DIP (DOE-UCLA)Q9UKV3
IntAct (EBI)Q9UKV3
BioGRIDACIN1
STRING (EMBL)ACIN1
ZODIACACIN1
Ontologies - Pathways
QuickGOQ9UKV3
Ontology : AmiGOnucleic acid binding  RNA binding  protein binding  nucleus  nucleoplasm  cytosol  cytosol  plasma membrane  mRNA processing  RNA splicing  nuclear speck  ATP hydrolysis activity  enzyme binding  erythrocyte differentiation  apoptotic chromosome condensation  positive regulation of monocyte differentiation  ASAP complex  
Ontology : EGO-EBInucleic acid binding  RNA binding  protein binding  nucleus  nucleoplasm  cytosol  cytosol  plasma membrane  mRNA processing  RNA splicing  nuclear speck  ATP hydrolysis activity  enzyme binding  erythrocyte differentiation  apoptotic chromosome condensation  positive regulation of monocyte differentiation  ASAP complex  
Pathways : KEGGKEGG_SPLICEOSOME   
NDEx NetworkACIN1
Atlas of Cancer Signalling NetworkACIN1
Wikipedia pathwaysACIN1
Orthology - Evolution
OrthoDB22985
GeneTree (enSembl)ENSG00000100813
Phylogenetic Trees/Animal Genes : TreeFamACIN1
Homologs : HomoloGeneACIN1
Homology/Alignments : Family Browser (UCSC)ACIN1
Gene fusions - Rearrangements
Fusion : QuiverACIN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACIN1
dbVarACIN1
ClinVarACIN1
MonarchACIN1
1000_GenomesACIN1 
Exome Variant ServerACIN1
GNOMAD BrowserENSG00000100813
Varsome BrowserACIN1
ACMGACIN1 variants
VarityQ9UKV3
Genomic Variants (DGV)ACIN1 [DGVbeta]
DECIPHERACIN1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DACIN1
Mutations and Diseases : HGMDACIN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaACIN1
DgiDB (Drug Gene Interaction Database)ACIN1
DoCM (Curated mutations)ACIN1
CIViC (Clinical Interpretations of Variants in Cancer)ACIN1
Cancer3DACIN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604562   
Orphanet
DisGeNETACIN1
MedgenACIN1
Genetic Testing Registry ACIN1
NextProtQ9UKV3 [Medical]
GENETestsACIN1
Target ValidationACIN1
Huge Navigator ACIN1 [HugePedia]
ClinGenACIN1
Clinical trials, drugs, therapy
MyCancerGenomeACIN1
Protein Interactions : CTDACIN1
Pharm GKB GenePA134912489
PharosQ9UKV3
Clinical trialACIN1
Miscellaneous
canSAR (ICR)ACIN1
HarmonizomeACIN1
ARCHS4ACIN1
DataMed IndexACIN1
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACIN1
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 : Thu Jan 20 12:21:04 CET 2022

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