CRACD

capping protein inhibiting regulator of actin dynamics

Basic information

Region (hg38): 4:56049098-56330609

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.

• not_specified (202 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. These statistics are base on transcript: NM_001393381.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			197	5		202
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	197	5	0

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