FAM149A

family with sequence similarity 149 member A

Basic information

Region (hg38): 4:186104419-186175337

Links

ENSG00000109794 ∙ NCBI:25854 ∙ ∙ HGNC:24527 ∙ Uniprot:A5PLN7 ∙ 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 FAM149A gene.

• not_specified (94 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM149A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001395294.1. 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			78	17		95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	78	17	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM149A	protein_coding	protein_coding	ENST00000227065	11	68249

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000136	0.991	125687	0	61	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.315	310	295	1.05	0.0000182	3074
Missense in Polyphen		68	70.264	0.96778		846
Synonymous	-0.920	138	125	1.10	0.00000880	1006
Loss of Function	2.34	12	24.5	0.489	0.00000127	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000631	0.000631
Ashkenazi Jewish	0.00	0.00
East Asian	0.000652	0.000653
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.000652	0.000653
South Asian	0.000494	0.000490
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.927
• rvis_EVS: 3.12
• rvis_percentile_EVS: 99.27

Haploinsufficiency Scores

• pHI: 0.0955
• hipred: N
• hipred_score: 0.324
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0354

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam149a