FAM177A1

family with sequence similarity 177 member A1

Basic information

Region (hg38): 14:35045117-35116630

Previous symbols: [ "C14orf24" ]

Links

ENSG00000151327 ∙ NCBI:283635 ∙ OMIM:619181 ∙ HGNC:19829 ∙ Uniprot:Q8N128 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Moderate), mode of inheritance: AR
• complex neurodevelopmental disorder (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM177A1 gene.

• not_specified (39 variants)
• not_provided (6 variants)
• FAM177A1-related_disorder (2 variants)
• Neurodevelopmental_disorder_with_white_matter_abnormalities_and_gait_disturbance (2 variants)
• Mild_obesity (1 variants)
• Intellectual_disability (1 variants)
• Macrocephaly (1 variants)
• Dolichocephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM177A1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173607.5. 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				3		3
missense			38	2		40
nonsense	1					1
start loss						0
frameshift	2	1				3
splice donor/acceptor (+/-2bp)						0
Total	3	1	38	5	0

Highest pathogenic variant AF is 0.000008054493

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM177A1	protein_coding	protein_coding	ENST00000280987	5	68224

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00118	0.855	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.302	131	122	1.08	0.00000573	1532
Missense in Polyphen		44	46.966	0.93685		604
Synonymous	-0.803	48	41.4	1.16	0.00000195	436
Loss of Function	1.26	6	10.4	0.577	4.46e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000378	0.000378
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0945

Intolerance Scores

• loftool: 0.231
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63

Haploinsufficiency Scores

• pHI: 0.197
• hipred: N
• hipred_score: 0.170
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.221

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam177a