DIPK1C

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

Basic information

Region (hg38): 18:74434775-74457944

Previous symbols: [ "C18orf51", "FAM69C" ]

Links

ENSG00000187773 ∙ NCBI:125704 ∙ OMIM:614544 ∙ HGNC:31729 ∙ Uniprot:Q0P6D2 ∙ 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 DIPK1C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIPK1C 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				1		1
missense			37	3		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	4	0

Variants in DIPK1C

This is a list of pathogenic ClinVar variants found in the DIPK1C region.

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

Position	Type	Phenotype	Significance	ClinVar
18-74436521-G-C		not specified	Uncertain significance (Nov 03, 2023)
18-74436542-G-T		not specified	Uncertain significance (Jul 19, 2023)
18-74436551-G-A		not specified	Uncertain significance (Nov 26, 2024)
18-74436584-G-A		not specified	Uncertain significance (May 18, 2022)
18-74436628-G-A		not specified	Uncertain significance (Jul 14, 2021)
18-74436698-G-A		not specified	Uncertain significance (May 26, 2023)
18-74441964-G-C		not specified	Uncertain significance (Sep 25, 2024)
18-74441971-C-T		not specified	Uncertain significance (Sep 22, 2023)
18-74441995-C-T		not specified	Uncertain significance (Mar 01, 2023)
18-74442057-C-A		not specified	Uncertain significance (Mar 29, 2024)
18-74442065-T-G		not specified	Uncertain significance (Jun 01, 2023)
18-74442070-C-T		not specified	Uncertain significance (Apr 04, 2023)
18-74442092-C-T		not specified	Uncertain significance (Mar 03, 2023)
18-74442100-A-T		not specified	Uncertain significance (Dec 13, 2022)
18-74446619-C-T		not specified	Uncertain significance (May 16, 2024)
18-74446637-G-C		not specified	Uncertain significance (Jul 14, 2021)
18-74446662-G-A		not specified	Uncertain significance (Aug 02, 2021)
18-74446688-T-C		not specified	Likely benign (Nov 09, 2024)
18-74446694-A-G		not specified	Uncertain significance (Nov 15, 2023)
18-74446706-C-G		not specified	Uncertain significance (Feb 23, 2023)
18-74446710-G-C		not specified	Uncertain significance (Oct 26, 2022)
18-74446764-G-A		not specified	Uncertain significance (Apr 07, 2022)
18-74446776-A-G		not specified	Uncertain significance (Nov 25, 2024)
18-74446784-C-T		not specified	Uncertain significance (Aug 08, 2023)
18-74446805-G-T		not specified	Uncertain significance (Nov 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIPK1C	protein_coding	protein_coding	ENST00000343998	4	22217

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.83e-7	0.129	124756	0	17	124773	0.0000681

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0428	195	193	1.01	0.0000122	2687
Missense in Polyphen		70	69.539	1.0066		937
Synonymous	0.482	78	83.6	0.933	0.00000572	850
Loss of Function	-0.391	9	7.82	1.15	3.33e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.000279	0.000278
Finnish	0.00	0.00
European (Non-Finnish)	0.0000707	0.0000706
Middle Eastern	0.000279	0.000278
South Asian	0.0000328	0.0000327
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.305

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam69c