MAP3K7CL

MAP3K7 C-terminal like

Basic information

Region (hg38): 21:29077470-29175889

Previous symbols: [ "C21orf7" ]

Links

ENSG00000156265 ∙ NCBI:56911 ∙ OMIM:611110 ∙ HGNC:16457 ∙ Uniprot:P57077 ∙ 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 MAP3K7CL gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K7CL 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in MAP3K7CL

This is a list of pathogenic ClinVar variants found in the MAP3K7CL region.

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

Position	Type	Phenotype	Significance	ClinVar
21-29085868-A-C		not specified	Uncertain significance (Jan 16, 2024)
21-29085887-A-C		not specified	Uncertain significance (Jan 03, 2024)
21-29085900-G-A		not specified	Uncertain significance (Jun 24, 2022)
21-29085900-G-C		not specified	Uncertain significance (Mar 06, 2023)
21-29085901-A-C		not specified	Uncertain significance (Nov 14, 2023)
21-29085904-C-A		not specified	Uncertain significance (Nov 04, 2023)
21-29092461-A-G		not specified	Uncertain significance (Aug 02, 2022)
21-29092473-A-C		not specified	Uncertain significance (Jan 23, 2023)
21-29092473-A-G		not specified	Uncertain significance (Mar 04, 2024)
21-29092509-A-G		not specified	Likely benign (Jan 24, 2024)
21-29092515-G-A		not specified	Uncertain significance (Jun 12, 2023)
21-29092540-A-G		not specified	Uncertain significance (Mar 06, 2023)
21-29092569-A-G		not specified	Uncertain significance (Mar 22, 2023)
21-29149197-C-G		not specified	Uncertain significance (Apr 13, 2022)
21-29149200-C-G		not specified	Uncertain significance (Jan 07, 2022)
21-29149238-C-A		not specified	Uncertain significance (Jan 30, 2024)
21-29174769-G-C		not specified	Uncertain significance (Feb 11, 2022)
21-29174776-C-T		not specified	Uncertain significance (Sep 16, 2021)
21-29174777-G-A		not specified	Uncertain significance (Apr 22, 2022)
21-29174795-C-T		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP3K7CL	protein_coding	protein_coding	ENST00000399947	7	98419

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.34e-8	0.167	125723	0	12	125735	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.630	111	131	0.845	0.00000692	1578
Missense in Polyphen		32	43.043	0.74344		529
Synonymous	-0.276	54	51.5	1.05	0.00000300	461
Loss of Function	0.0694	11	11.3	0.978	4.71e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000880	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0654

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

• pHI: 0.0564
• hipred: N
• hipred_score: 0.123
• ghis: 0.381

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Map3k7cl

Gene ontology

• Cellular component: nucleus;cytosol
• Molecular function: protein binding