IQCJ

IQ motif containing J

Basic information

Region (hg38): 3:158962927-159266307

Links

ENSG00000214216 ∙ NCBI:654502 ∙ OMIM:611622 ∙ HGNC:32406 ∙ Uniprot:Q1A5X6 ∙ 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 IQCJ gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCJ 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in IQCJ

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

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

Position	Type	Phenotype	Significance	ClinVar
3-159245843-G-A		not specified	Uncertain significance (Sep 27, 2022)
3-159245856-G-A		not specified	Uncertain significance (Feb 17, 2022)
3-159252746-G-C		not specified	Uncertain significance (Apr 17, 2023)
3-159252782-C-G		not specified	Uncertain significance (Dec 06, 2021)
3-159262565-G-A		not specified	Uncertain significance (Oct 06, 2022)
3-159262579-C-T		not specified	Uncertain significance (Mar 11, 2022)
3-159262580-G-A		not specified	Uncertain significance (Jan 09, 2024)
3-159262607-C-T		not specified	Uncertain significance (Dec 17, 2023)
3-159265278-G-A		not specified	Uncertain significance (May 04, 2023)
3-159265322-C-G		not specified	Uncertain significance (Aug 23, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCJ	protein_coding	protein_coding	ENST00000451172	5	303380

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000652	0.753	124567	0	21	124588	0.0000843

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.802	102	81.6	1.25	0.00000398	1019
Missense in Polyphen		39	32.849	1.1872		411
Synonymous	-0.367	34	31.4	1.08	0.00000151	306
Loss of Function	0.966	6	9.15	0.656	6.29e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000588	0.0000588
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000536	0.0000531
Middle Eastern	0.000112	0.000111
South Asian	0.000361	0.000360
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.360
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.28

Haploinsufficiency Scores

• pHI: 0.507
• hipred: N
• hipred_score: 0.145

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqcj