ACIN1

apoptotic chromatin condensation inducer 1, the group of ASAP complex

Basic information

Region (hg38): 14:23058564-23095614

Previous symbols: [ "ACINUS" ]

Links

ENSG00000100813 ∙ NCBI:22985 ∙ OMIM:604562 ∙ HGNC:17066 ∙ Uniprot:Q9UKV3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACIN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACIN1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			72			72
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	72	2	0

Variants in ACIN1

This is a list of pathogenic ClinVar variants found in the ACIN1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-23059212-G-A		not specified	Uncertain significance (Jan 19, 2022)
14-23059291-T-C		not specified	Uncertain significance (Oct 13, 2021)
14-23061333-C-A		not specified	Uncertain significance (May 30, 2024)
14-23061348-C-T		not specified	Uncertain significance (May 28, 2024)
14-23061366-C-T		not specified	Uncertain significance (May 17, 2023)
14-23061384-C-T		not specified	Uncertain significance (Aug 09, 2021)
14-23061397-G-A		not specified	Uncertain significance (Jan 24, 2024)
14-23061457-C-T		not specified	Uncertain significance (Jan 17, 2024)
14-23061501-C-T		not specified	Uncertain significance (Jun 11, 2024)
14-23061502-G-A		not specified	Uncertain significance (Mar 21, 2023)
14-23061566-C-A		not specified	Uncertain significance (Mar 29, 2023)
14-23061606-C-T		not specified	Uncertain significance (Aug 14, 2023)
14-23062230-C-T		not specified	Uncertain significance (Feb 27, 2023)
14-23062417-G-A		not specified	Uncertain significance (Dec 06, 2021)
14-23062466-C-T		not specified	Uncertain significance (May 25, 2022)
14-23062484-C-T		not specified	Uncertain significance (Feb 28, 2024)
14-23063024-C-T		not specified	Uncertain significance (Sep 13, 2023)
14-23063053-G-A		not specified	Uncertain significance (Sep 16, 2021)
14-23064188-G-A		not specified	Uncertain significance (May 31, 2023)
14-23064229-G-A		not specified	Uncertain significance (Dec 27, 2023)
14-23065972-C-T		not specified	Uncertain significance (May 22, 2023)
14-23066004-G-A		not specified	Uncertain significance (Dec 15, 2022)
14-23066007-C-T		not specified	Uncertain significance (May 09, 2023)
14-23069513-C-T		not specified	Uncertain significance (May 27, 2022)
14-23069514-G-A		not specified	Uncertain significance (Dec 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACIN1	protein_coding	protein_coding	ENST00000262710	19	37051

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000194	125707	0	41	125748	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.20	601	773	0.777	0.0000478	8583
Missense in Polyphen		180	272.83	0.65975		2948
Synonymous	-1.31	306	278	1.10	0.0000141	2746
Loss of Function	6.99	8	72.0	0.111	0.00000466	801

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000218	0.000217
South Asian	0.000198	0.000196
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence- independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells. {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500, ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}.
• Pathway: mRNA surveillance pathway - Homo sapiens (human);RNA transport - Homo sapiens (human);Spliceosome - Homo sapiens (human);Apoptotic cleavage of cellular proteins;Apoptotic execution phase;Apoptosis;Programmed Cell Death (Consensus)

Recessive Scores

• pRec: 0.423

Intolerance Scores

• loftool: 0.464
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.71

Haploinsufficiency Scores

• pHI: 0.757
• hipred: Y
• hipred_score: 0.655
• ghis: 0.564

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.948

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Acin1

Gene ontology

• Biological process: mRNA processing;RNA splicing;erythrocyte differentiation;apoptotic chromosome condensation;positive regulation of monocyte differentiation
• Cellular component: nucleus;nucleoplasm;nucleolus;cytosol;plasma membrane;nuclear speck;ASAP complex
• Molecular function: nucleic acid binding;RNA binding;protein binding;ATPase activity;enzyme binding