DIPK1B

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

Basic information

Region (hg38): 9:136712572-136724742

Previous symbols: [ "FAM69B" ]

Links

ENSG00000165716 ∙ NCBI:138311 ∙ OMIM:614543 ∙ HGNC:28290 ∙ Uniprot:Q5VUD6 ∙ 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 DIPK1B gene.

• not_specified (108 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIPK1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152421.4. 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			105	3		108
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	105	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIPK1B	protein_coding	protein_coding	ENST00000371692	5	11481

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0125	0.981	125663	0	61	125724	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.351	300	283	1.06	0.0000199	2695
Missense in Polyphen		101	105.54	0.95701		1031
Synonymous	-1.82	162	135	1.20	0.0000101	936
Loss of Function	2.37	6	16.3	0.367	7.01e-7	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000624	0.000623
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000271	0.000264
Middle Eastern	0.0000557	0.0000544
South Asian	0.000327	0.000327
Other	0.000500	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0998

Intolerance Scores

• rvis_EVS: -0.66
• rvis_percentile_EVS: 16.02

Haploinsufficiency Scores

• pHI: 0.0694
• hipred: N
• hipred_score: 0.229
• ghis: 0.624

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam69b