DIPK1A

divergent protein kinase domain 1A, the group of divergent protein kinase domain family

Basic information

Region (hg38): 1:92832737-92961522

Previous symbols: [ "FAM69A" ]

Links

ENSG00000154511 ∙ NCBI:388650 ∙ OMIM:614542 ∙ HGNC:32213 ∙ Uniprot:Q5T7M9 ∙ 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 DIPK1A gene.

• not_specified (41 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIPK1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001006605.5. 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			41			41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIPK1A	protein_coding	protein_coding	ENST00000370310	5	119334

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.584	0.416	124585	0	7	124592	0.0000281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.26	120	213	0.564	0.0000102	2818
Missense in Polyphen		35	85.407	0.4098		1109
Synonymous	0.716	66	73.8	0.894	0.00000362	776
Loss of Function	2.97	3	15.7	0.191	6.53e-7	246

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000691	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000535	0.0000531
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Intolerance Scores

• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.87

Haploinsufficiency Scores

• pHI: 0.296
• hipred: N
• hipred_score: 0.336
• ghis: 0.446

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam69a
• Phenotype: homeostasis/metabolism phenotype