FAM131C

family with sequence similarity 131 member C

Basic information

Region (hg38): 1:16057769-16073651

Previous symbols: [ "C1orf117" ]

Links

ENSG00000185519 ∙ NCBI:348487 ∙ ∙ HGNC:26717 ∙ Uniprot:Q96AQ9 ∙ 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 FAM131C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM131C 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	2
missense			20	3	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	20	4	3

Variants in FAM131C

This is a list of pathogenic ClinVar variants found in the FAM131C region.

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

Position	Type	Phenotype	Significance	ClinVar
1-16058500-C-T			Likely benign (Dec 01, 2022)
1-16058505-G-C		not specified	Uncertain significance (Aug 12, 2022)
1-16058506-G-C		not specified	Uncertain significance (Sep 14, 2023)
1-16058523-G-T		not specified	Uncertain significance (Nov 12, 2024)
1-16058535-C-T		not specified	Uncertain significance (Sep 20, 2024)
1-16058579-G-A		not specified	Likely benign (Jun 21, 2023)
1-16058628-G-A		not specified	Uncertain significance (Oct 27, 2022)
1-16058636-C-A			Benign (May 03, 2019)
1-16058653-C-G		not specified	Uncertain significance (Feb 22, 2023)
1-16058705-A-G		not specified	Uncertain significance (Aug 26, 2024)
1-16059485-G-A			Benign (Dec 10, 2019)
1-16059503-G-C		not specified	Uncertain significance (Nov 22, 2024)
1-16059513-T-C			Benign (Dec 10, 2019)
1-16059527-C-T		not specified	Uncertain significance (Oct 06, 2021)
1-16059553-G-A		not specified	Uncertain significance (May 03, 2023)
1-16059883-G-T		not specified	Uncertain significance (Feb 28, 2023)
1-16059890-G-T		not specified	Uncertain significance (Aug 12, 2021)
1-16059892-A-G		not specified	Uncertain significance (Oct 27, 2023)
1-16059916-T-C		not specified	Uncertain significance (Jun 10, 2024)
1-16059920-C-T		not specified	Uncertain significance (Nov 03, 2023)
1-16059922-T-C		not specified	Uncertain significance (Sep 01, 2021)
1-16059922-T-G		not specified	Uncertain significance (Feb 12, 2024)
1-16059926-C-T		not specified	Uncertain significance (Oct 20, 2024)
1-16059980-T-C		not specified	Uncertain significance (Sep 28, 2021)
1-16059994-C-T		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM131C	protein_coding	protein_coding	ENST00000375662	7	15864

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0115	0.953	124651	0	11	124662	0.0000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.195	155	148	1.04	0.00000905	1740
Missense in Polyphen		51	53.531	0.95272		651
Synonymous	-0.549	72	66.3	1.09	0.00000483	533
Loss of Function	1.83	5	11.8	0.424	5.77e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000168	0.000159
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.0000477	0.0000464
European (Non-Finnish)	0.0000299	0.0000265
Middle Eastern	0.0000557	0.0000556
South Asian	0.000103	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0885

Intolerance Scores

• loftool: 0.632
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.3

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.247
• ghis: 0.501

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.876

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Fam131c

Gene ontology

• Molecular function: protein binding