CISD1

CDGSH iron sulfur domain 1, the group of CDGSH iron sulfur domain containing

Basic information

Region (hg38): 10:58269161-58289586

Previous symbols: [ "C10orf70", "ZCD1" ]

Links

ENSG00000122873 ∙ NCBI:55847 ∙ OMIM:611932 ∙ HGNC:30880 ∙ Uniprot:Q9NZ45 ∙ 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 CISD1 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CISD1 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in CISD1

This is a list of pathogenic ClinVar variants found in the CISD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-58277132-C-T		not specified	Uncertain significance (Jan 08, 2024)
10-58277241-C-A		not specified	Uncertain significance (May 24, 2023)
10-58277297-A-G		not specified	Uncertain significance (May 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CISD1	protein_coding	protein_coding	ENST00000333926	3	20529

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0217	0.772	125720	0	9	125729	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.346	49	56.3	0.870	0.00000277	715
Missense in Polyphen		11	17.212	0.63909		250
Synonymous	0.649	15	18.6	0.808	9.41e-7	196
Loss of Function	0.903	3	5.23	0.574	2.95e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000126	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000363	0.0000352
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation (By similarity). May be involved in Fe-S cluster shuttling and/or in redox reactions. {ECO:0000250, ECO:0000269|PubMed:17584744, ECO:0000269|PubMed:17766440}.
• Pathway: Adipogenesis (Consensus)

Intolerance Scores

• loftool: 0.626
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.562
• hipred: N
• hipred_score: 0.444
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cisd1
• Phenotype: cellular phenotype

Gene ontology

• Biological process: regulation of cellular respiration
• Cellular component: mitochondrion;integral component of membrane;cytoplasmic side of mitochondrial outer membrane
• Molecular function: identical protein binding;metal ion binding;2 iron, 2 sulfur cluster binding