DIPK2B

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

Basic information

Region (hg38): X:45148373-45200901

Previous symbols: [ "CXorf36" ]

Links

ENSG00000147113 ∙ NCBI:79742 ∙ OMIM:300959 ∙ HGNC:25866 ∙ Uniprot:Q9H7Y0 ∙ 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 DIPK2B gene.

• not_provided (8 variants)
• DIPK2B-related_disorder (7 variants)
• not_specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIPK2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000176819.4. 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				5	1	6
missense			2	1	4	7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	2	6	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIPK2B	protein_coding	protein_coding	ENST00000398000	5	52528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000328	0.591	125695	9	14	125718	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.539	160	180	0.887	0.0000153	2796
Missense in Polyphen		59	66.145	0.89197		907
Synonymous	-0.263	84	81.0	1.04	0.00000717	896
Loss of Function	0.746	8	10.6	0.753	7.91e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000735	0.0000735
Ashkenazi Jewish	0.00	0.00
East Asian	0.000598	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000119	0.0000791
Middle Eastern	0.000598	0.000435
South Asian	0.000210	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Disease: DISEASE: Note=Genetic variations in CXorf36 may be associated with susceptibility to autism. {ECO:0000269|PubMed:21264219}.

Intolerance Scores

• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.51

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.253
• ghis: 0.408

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: 4930578C19Rik