MATCAP1

microtubule associated tyrosine carboxypeptidase 1

Basic information

Region (hg38): 16:67175599-67184040

Previous symbols: [ "KIAA0895L" ]

Links

ENSG00000196123 ∙ NCBI:653319 ∙ OMIM:619978 ∙ HGNC:34408 ∙ Uniprot:Q68EN5 ∙ 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 MATCAP1 gene.

• not_specified (68 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MATCAP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001040715.2. 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						0
missense			67	1		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MATCAP1	protein_coding	protein_coding	ENST00000290881	6	8439

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00194	0.994	124774	0	21	124795	0.0000841

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.58	217	293	0.741	0.0000177	2982
Missense in Polyphen		51	97.189	0.52475		1131
Synonymous	1.41	97	116	0.834	0.00000605	991
Loss of Function	2.51	8	20.1	0.397	0.00000103	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000191	0.000188
Ashkenazi Jewish	0.00	0.00
East Asian	0.000336	0.000334
Finnish	0.00	0.00
European (Non-Finnish)	0.0000647	0.0000618
Middle Eastern	0.000336	0.000334
South Asian	0.000152	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.249
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.51

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.351
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4931428F04Rik