DIPK2A

divergent protein kinase domain 2A, the group of divergent protein kinase domain family

Basic information

Region (hg38): 3:143971823-144048719

Previous symbols: [ "C3orf58" ]

Links

ENSG00000181744 ∙ NCBI:205428 ∙ OMIM:612200 ∙ HGNC:28490 ∙ Uniprot:Q8NDZ4 ∙ 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 DIPK2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIPK2A 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIPK2A	protein_coding	protein_coding	ENST00000315691	3	76922

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000514	0.973	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	199	244	0.814	0.0000122	2749
Missense in Polyphen		44	63.259	0.69555		720
Synonymous	-0.707	111	102	1.09	0.00000507	866
Loss of Function	1.96	8	16.6	0.480	8.14e-7	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000645	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade. {ECO:0000269|PubMed:23784961}.
• Disease: DISEASE: Note=Genetic variations in C3orf58 may be associated with susceptibility to autism (PubMed:18621663). {ECO:0000269|PubMed:18621663}.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.610
• hipred: Y
• hipred_score: 0.593
• ghis: 0.625

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: 1190002N15Rik