FAM174A

family with sequence similarity 174 member A

Basic information

Region (hg38): 5:100535338-100586741

Previous symbols: [ "TMEM157" ]

Links

ENSG00000174132 ∙ NCBI:345757 ∙ ∙ HGNC:24943 ∙ Uniprot:Q8TBP5 ∙ 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 FAM174A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM174A 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	0

Variants in FAM174A

This is a list of pathogenic ClinVar variants found in the FAM174A region.

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

Position	Type	Phenotype	Significance	ClinVar
5-100535537-G-C		not specified	Uncertain significance (May 09, 2024)
5-100535554-C-G		not specified	Uncertain significance (Jul 05, 2024)
5-100535556-G-C		not specified	Uncertain significance (Jan 24, 2024)
5-100535567-C-G		not specified	Uncertain significance (Aug 13, 2021)
5-100535601-C-T		not specified	Uncertain significance (Jan 26, 2023)
5-100535606-C-A		not specified	Uncertain significance (Sep 30, 2024)
5-100535640-C-G		not specified	Uncertain significance (Jun 25, 2024)
5-100535690-C-T		not specified	Uncertain significance (Jul 12, 2023)
5-100535733-G-A		not specified	Uncertain significance (Jan 16, 2024)
5-100535741-G-C		not specified	Uncertain significance (Oct 16, 2023)
5-100535766-C-A		not specified	Uncertain significance (Aug 02, 2021)
5-100535775-G-A		not specified	Uncertain significance (Aug 14, 2023)
5-100535818-C-A		not specified	Uncertain significance (May 27, 2022)
5-100535834-G-A		not specified	Uncertain significance (Jul 23, 2024)
5-100535874-C-G		not specified	Uncertain significance (Dec 12, 2023)
5-100535895-A-G		not specified	Uncertain significance (Sep 16, 2021)
5-100535928-G-T		not specified	Uncertain significance (May 05, 2023)
5-100562056-T-C		not specified	Uncertain significance (Mar 12, 2024)
5-100562059-G-A		not specified	Uncertain significance (Mar 07, 2024)
5-100562071-G-A		not specified	Uncertain significance (Jul 12, 2022)
5-100562149-A-T		not specified	Uncertain significance (Jan 29, 2024)
5-100562176-A-T		not specified	Uncertain significance (Jul 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM174A	protein_coding	protein_coding	ENST00000312637	3	51437

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000858	0.341	125723	0	23	125746	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.500	95	110	0.866	0.00000509	1189
Missense in Polyphen		40	50.195	0.79689		570
Synonymous	0.338	47	50.0	0.939	0.00000225	422
Loss of Function	-0.0590	6	5.85	1.03	3.29e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000933	0.0000933
Ashkenazi Jewish	0.00	0.00
East Asian	0.000175	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000153	0.000141
Middle Eastern	0.000175	0.000163
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.503
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.58

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.180
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.123

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam174a

Gene ontology

• Cellular component: integral component of membrane