CIAPIN1

cytokine induced apoptosis inhibitor 1, the group of 7BS orphan methyltransferases|Cytosolic iron-sulfur assembly components

Basic information

Region (hg38): 16:57428186-57447420

Links

ENSG00000005194 ∙ NCBI:57019 ∙ OMIM:608943 ∙ HGNC:28050 ∙ Uniprot:Q6FI81 ∙ 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 CIAPIN1 gene.

• Inborn genetic diseases (9 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIAPIN1 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						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	2	3
Total	0	0	9	1	2

Variants in CIAPIN1

This is a list of pathogenic ClinVar variants found in the CIAPIN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-57429228-G-T		not specified	Uncertain significance (Sep 26, 2023)
16-57430320-C-G		not specified	Uncertain significance (Dec 12, 2023)
16-57432500-T-G		not specified	Uncertain significance (Aug 13, 2021)
16-57434071-A-G		not specified	Uncertain significance (May 18, 2023)
16-57434188-C-G		not specified	Uncertain significance (Oct 04, 2022)
16-57436693-G-A		not specified	Uncertain significance (Dec 13, 2022)
16-57436709-C-T		not specified	Uncertain significance (Dec 07, 2023)
16-57436730-T-C		not specified	Uncertain significance (Dec 22, 2023)
16-57439188-C-T		not specified	Uncertain significance (Jul 14, 2022)
16-57439239-G-A		not specified	Uncertain significance (Jul 05, 2023)
16-57439259-T-G		not specified	Uncertain significance (Jan 31, 2024)
16-57439277-G-A		not specified	Uncertain significance (Oct 27, 2023)
16-57440789-A-G		not specified	Uncertain significance (Jun 05, 2023)
16-57440822-G-A		not specified	Uncertain significance (Jan 03, 2022)
16-57440885-A-G		not specified	Uncertain significance (Oct 29, 2021)
16-57447089-G-A			Likely benign (Jun 26, 2018)
16-57447326-C-A			Benign (Jun 26, 2018)
16-57447393-T-C			Benign (Jun 23, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIAPIN1	protein_coding	protein_coding	ENST00000394391	8	19360

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00190	0.978	124774	0	20	124794	0.0000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	130	171	0.759	0.00000899	2020
Missense in Polyphen		30	47.082	0.63718		543
Synonymous	0.438	61	65.5	0.931	0.00000337	634
Loss of Function	2.04	7	15.7	0.445	8.28e-7	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000129	0.000129
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000223
Finnish	0.00	0.00
European (Non-Finnish)	0.000124	0.000124
Middle Eastern	0.000223	0.000223
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1 (PubMed:23596212). NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electrons for reduction during radical cofactor maturation in the catalytic small subunit (By similarity). Has anti-apoptotic effects in the cell. Involved in negative control of cell death upon cytokine withdrawal. Promotes development of hematopoietic cells (By similarity). {ECO:0000250|UniProtKB:P36152, ECO:0000250|UniProtKB:Q8WTY4, ECO:0000255|HAMAP-Rule:MF_03115, ECO:0000269|PubMed:23596212}.
• Pathway: Metabolism;Cytosolic iron-sulfur cluster assembly (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.546
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.51

Haploinsufficiency Scores

• pHI: 0.130
• hipred: Y
• hipred_score: 0.530
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ciapin1
• Phenotype: growth/size/body region phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; embryo phenotype

Gene ontology

• Biological process: apoptotic process;iron-sulfur cluster assembly;electron transport chain;hemopoiesis;methylation;negative regulation of apoptotic process
• Cellular component: nucleoplasm;nucleolus;cytoplasm;mitochondrion;mitochondrial intermembrane space
• Molecular function: protein binding;methyltransferase activity;electron transfer activity;metal ion binding;2 iron, 2 sulfur cluster binding;4 iron, 4 sulfur cluster binding