IQCD

IQ motif containing D, the group of Dynein regulatory complex|Cilia and flagella associated

Basic information

Region (hg38): 12:113195441-113221094

Links

ENSG00000166578 ∙ NCBI:115811 ∙ ∙ HGNC:25168 ∙ Uniprot:Q96DY2 ∙ 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 IQCD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCD 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			29	2		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	2	0

Variants in IQCD

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

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

Position	Type	Phenotype	Significance	ClinVar
12-113195648-C-T		not specified	Uncertain significance (Mar 31, 2023)
12-113195711-G-A		not specified	Uncertain significance (Mar 02, 2023)
12-113195715-C-T		not specified	Uncertain significance (Jun 12, 2023)
12-113195717-G-A		not specified	Uncertain significance (May 23, 2023)
12-113195727-T-C		not specified	Uncertain significance (Apr 18, 2024)
12-113195730-G-C		not specified	Uncertain significance (Nov 10, 2022)
12-113195748-C-A		not specified	Uncertain significance (Jul 13, 2021)
12-113195763-T-C		not specified	Uncertain significance (Mar 17, 2023)
12-113195766-A-G		not specified	Uncertain significance (May 17, 2023)
12-113195798-A-T		not specified	Uncertain significance (Apr 20, 2024)
12-113195805-C-T		not specified	Uncertain significance (Dec 16, 2023)
12-113195835-C-T		not specified	Uncertain significance (Feb 15, 2023)
12-113207505-T-C		not specified	Uncertain significance (Jun 16, 2024)
12-113207506-T-C		not specified	Uncertain significance (Jun 07, 2024)
12-113207514-T-C		not specified	Likely benign (Nov 13, 2023)
12-113207527-C-T		not specified	Uncertain significance (Jul 27, 2024)
12-113207553-G-A		not specified	Uncertain significance (Nov 13, 2024)
12-113207557-C-T		not specified	Uncertain significance (Oct 26, 2024)
12-113207595-C-T		not specified	Uncertain significance (Nov 13, 2024)
12-113207596-G-A		not specified	Uncertain significance (Jun 13, 2022)
12-113207617-T-C		not specified	Uncertain significance (Mar 29, 2023)
12-113207625-T-C		not specified	Uncertain significance (Feb 14, 2023)
12-113207652-T-G		not specified	Uncertain significance (Feb 17, 2024)
12-113207778-C-T		not specified	Uncertain significance (Nov 27, 2024)
12-113207854-C-T		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCD	protein_coding	protein_coding	ENST00000299732	2	25654

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.77e-9	0.0354	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0590	192	194	0.988	0.0000110	2295
Missense in Polyphen		30	47.219	0.63534		607
Synonymous	0.842	68	77.4	0.878	0.00000440	666
Loss of Function	-0.746	12	9.52	1.26	4.12e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000797	0.0000791
Middle Eastern	0.000218	0.000217
South Asian	0.000359	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. {ECO:0000250|UniProtKB:A8J0N6}.

Intolerance Scores

• loftool: 0.851
• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.06

Haploinsufficiency Scores

• pHI: 0.0984
• hipred: N
• hipred_score: 0.123
• ghis: 0.456

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.269

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqcd

Gene ontology

• Cellular component: cytoplasm;cytoskeleton;motile cilium