MEAK7

MTOR associated protein, eak-7 homolog, the group of TLDc domain containing

Basic information

Region (hg38): 16:84476355-84554033

Previous symbols: [ "KIAA1609", "TLDC1" ]

Links

ENSG00000140950 ∙ NCBI:57707 ∙ OMIM:619331 ∙ HGNC:29325 ∙ Uniprot:Q6P9B6 ∙ 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 MEAK7 gene.

• not_specified (132 variants)
• not_provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEAK7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020947.4. 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				2	3	5
missense			123	10	5	138
nonsense						0
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	123	13	8

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEAK7	protein_coding	protein_coding	ENST00000343629	7	75959

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.77e-18	0.000661	125421	0	326	125747	0.00130

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.83	445	269	1.66	0.0000157	2983
Missense in Polyphen		93	60.632	1.5338		711
Synonymous	-4.67	177	114	1.56	0.00000710	885
Loss of Function	-1.14	23	17.8	1.29	8.45e-7	198

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00200	0.00200
Ashkenazi Jewish	0.00	0.00
East Asian	0.00229	0.00229
Finnish	0.000324	0.000323
European (Non-Finnish)	0.00152	0.00151
Middle Eastern	0.00229	0.00229
South Asian	0.00121	0.00121
Other	0.00130	0.00130

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0999

Intolerance Scores

• rvis_EVS: 1.76
• rvis_percentile_EVS: 96.76

Haploinsufficiency Scores

• pHI: 0.487
• hipred: N
• hipred_score: 0.219
• ghis: 0.508

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tldc1