CRACD

capping protein inhibiting regulator of actin dynamics

Basic information

Region (hg38): 4:56049097-56330609

Previous symbols: [ "KIAA1211" ]

Links

ENSG00000109265 ∙ NCBI:57482 ∙ OMIM:618327 ∙ HGNC:29219 ∙ Uniprot:Q6ZU35 ∙ 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 CRACD gene.

• Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRACD 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in CRACD

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

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

Position	Type	Phenotype	Significance	ClinVar
4-56298236-A-G		not specified	Uncertain significance (Jun 06, 2023)
4-56298239-C-G		not specified	Uncertain significance (Oct 20, 2023)
4-56298240-G-A		not specified	Uncertain significance (Dec 19, 2022)
4-56298287-A-G		not specified	Uncertain significance (Jul 13, 2022)
4-56298339-A-G		not specified	Uncertain significance (Jan 24, 2024)
4-56307569-G-A		not specified	Uncertain significance (Dec 21, 2022)
4-56307598-G-A		not specified	Uncertain significance (Dec 11, 2023)
4-56307673-A-G		not specified	Uncertain significance (Jul 26, 2022)
4-56307694-A-G		not specified	Uncertain significance (Jan 30, 2024)
4-56310676-C-T		not specified	Uncertain significance (Nov 08, 2021)
4-56313218-C-T		not specified	Uncertain significance (Oct 25, 2022)
4-56313237-C-T		not specified	Uncertain significance (Mar 23, 2022)
4-56313293-C-T		not specified	Uncertain significance (Aug 26, 2022)
4-56313294-G-A		not specified	Uncertain significance (Apr 22, 2022)
4-56313356-A-G		not specified	Uncertain significance (Apr 04, 2023)
4-56314055-C-G		not specified	Uncertain significance (May 15, 2023)
4-56314087-C-A		not specified	Uncertain significance (Dec 12, 2023)
4-56314106-G-A		not specified	Uncertain significance (Dec 28, 2023)
4-56314175-G-C		not specified	Uncertain significance (Sep 13, 2023)
4-56314296-G-A		not specified	Uncertain significance (Aug 10, 2021)
4-56314308-T-G		not specified	Uncertain significance (Jun 27, 2022)
4-56314313-G-C		not specified	Uncertain significance (Jun 29, 2022)
4-56314350-C-T		not specified	Uncertain significance (Feb 22, 2023)
4-56314365-G-C		not specified	Uncertain significance (Jul 30, 2023)
4-56314409-G-A		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRACD	protein_coding	protein_coding	ENST00000504228	8	158431

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000532	1.00	124820	0	26	124846	0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.356	725	753	0.963	0.0000505	7930
Missense in Polyphen		134	127.95	1.0473		1360
Synonymous	-0.457	346	335	1.03	0.0000262	2481
Loss of Function	4.08	16	45.8	0.349	0.00000241	532

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000384	0.000384
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.0000536	0.0000529
Middle Eastern	0.000167	0.000167
South Asian	0.0000658	0.0000654
Other	0.000513	0.000494

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.461
• rvis_EVS: 1.63
• rvis_percentile_EVS: 96.08

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.322

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.103

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: C530008M17Rik