DIPK1B

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

Basic information

Region (hg38): 9:136712571-136724742

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.

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.

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			39	2		41
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	2	0

Variants in DIPK1B

This is a list of pathogenic ClinVar variants found in the DIPK1B region.

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

Position	Type	Phenotype	Significance	ClinVar
9-136712691-A-G		not specified	Uncertain significance (Oct 05, 2023)
9-136712709-C-G		not specified	Uncertain significance (Jul 12, 2023)
9-136717601-C-T		not specified	Uncertain significance (Aug 16, 2021)
9-136717609-C-G		not specified	Uncertain significance (Jun 06, 2023)
9-136717674-C-T		not specified	Uncertain significance (Oct 26, 2022)
9-136717676-G-A		not specified	Uncertain significance (May 30, 2024)
9-136717688-G-A		not specified	Uncertain significance (May 20, 2024)
9-136721957-G-A		not specified	Likely benign (Jan 07, 2022)
9-136721986-G-A		not specified	Uncertain significance (Jun 24, 2022)
9-136721987-G-C		not specified	Uncertain significance (Sep 16, 2021)
9-136722008-T-C		not specified	Uncertain significance (Mar 25, 2024)
9-136722012-T-C		not specified	Likely benign (Jul 20, 2022)
9-136722018-C-T		not specified	Uncertain significance (Oct 26, 2022)
9-136722200-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-136722201-G-A		not specified	Uncertain significance (Mar 29, 2024)
9-136722204-C-T		not specified	Uncertain significance (May 08, 2024)
9-136722212-G-A		not specified	Uncertain significance (Dec 14, 2021)
9-136722243-A-G		not specified	Uncertain significance (Aug 09, 2021)
9-136722267-A-C		not specified	Uncertain significance (Dec 22, 2023)
9-136722267-A-G		not specified	Uncertain significance (Dec 22, 2023)
9-136722275-C-T		not specified	Uncertain significance (May 18, 2022)
9-136722984-C-T		not specified	Uncertain significance (Oct 12, 2021)
9-136722990-C-T		not specified	Uncertain significance (Oct 18, 2021)
9-136723031-A-G		not specified	Uncertain significance (Nov 09, 2023)
9-136723131-C-T		not specified	Uncertain significance (Apr 24, 2024)

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