CRACDL

Gene

CRACD like

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C2orf55
KIAA1211L

MANE transcript

NM_207362.3

Inheritance

—

ClinVar variants

U:182B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.08

Max pathogenic AF

—

Genomic locus

chr2:98,793,846-98,936,259

External References & Databases

Ensembl (ENSG00000196872)

Transcript & Mutation Effects

hg38 • Region Span ~142.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CRACDL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 180

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207362.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar		1 clinvar	4
missense			177 clinvar	9 clinvar	1 clinvar	187
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	182	9	2	193

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207362.3	RefSeq	NP_997245.2	9	MANE Select
ENST00000397899.7	Ensembl	ENSP00000380996.2	9	MANE Select
ENST00000415261.5	Ensembl	ENSP00000390799.1	5	Standard
ENST00000420294.1	Ensembl	ENSP00000403428.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397899
Coding exons: 9
Length: 142414
Individuals with no LoFs: 124767
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 124769
p: 0.00000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.88	378	496	0.762	0.0000314	6034
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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