CRACDL

CRACD like

Basic information

Region (hg38): 2:98793846-98936259

Previous symbols: [ "C2orf55", "KIAA1211L" ]

Links

ENSG00000196872 ∙ NCBI:343990 ∙ ∙ HGNC:33454 ∙ Uniprot:Q6NV74 ∙ 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 CRACDL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRACDL 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					1	1
missense			68	4	1	73
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	68	4	2

Variants in CRACDL

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

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

Position	Type	Phenotype	Significance	ClinVar
2-98794614-G-A		not specified	Uncertain significance (Oct 31, 2023)
2-98796168-A-G		not specified	Likely benign (Dec 27, 2023)
2-98796191-C-T			Benign (Jun 05, 2018)
2-98796192-G-A		not specified	Uncertain significance (Feb 16, 2023)
2-98796201-C-G		not specified	Uncertain significance (Sep 16, 2021)
2-98796232-G-T		not specified	Uncertain significance (Jan 17, 2024)
2-98796254-T-C		not specified	Uncertain significance (Feb 17, 2022)
2-98796262-C-G		not specified	Uncertain significance (Jan 30, 2024)
2-98797362-G-A			Benign (Jun 05, 2018)
2-98797403-G-A		not specified	Uncertain significance (Jul 08, 2021)
2-98797462-C-A		not specified	Uncertain significance (Jan 18, 2023)
2-98797465-G-A		not specified	Uncertain significance (Aug 04, 2023)
2-98797533-C-A		not specified	Uncertain significance (Aug 26, 2022)
2-98821868-C-T		not specified	Likely benign (Apr 18, 2023)
2-98821899-C-T		not specified	Uncertain significance (Jun 18, 2021)
2-98821958-G-A		not specified	Uncertain significance (Sep 07, 2022)
2-98821978-C-G		not specified	Uncertain significance (Feb 15, 2023)
2-98822021-C-T		not specified	Uncertain significance (Apr 13, 2022)
2-98822022-G-A		not specified	Uncertain significance (Nov 14, 2023)
2-98822031-C-A		not specified	Uncertain significance (May 24, 2023)
2-98822073-G-C		not specified	Uncertain significance (Feb 07, 2023)
2-98822122-C-G		not specified	Uncertain significance (Jul 21, 2022)
2-98822161-C-G		not specified	Uncertain significance (Dec 14, 2021)
2-98822208-T-A		not specified	Uncertain significance (May 27, 2022)
2-98822232-G-A		not specified	Uncertain significance (Mar 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRACDL	protein_coding	protein_coding	ENST00000397899	9	142414

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00306	124767	0	2	124769	0.00000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	378	496	0.762	0.0000314	6034
Missense in Polyphen		90	116.94	0.76965		1409
Synonymous	1.68	188	220	0.856	0.0000152	2074
Loss of Function	4.35	2	25.8	0.0774	0.00000115	369

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.178
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 2010300C02Rik
• Phenotype: hematopoietic system phenotype; immune system phenotype; homeostasis/metabolism phenotype