FAM177A1

family with sequence similarity 177 member A1

Basic information

Region (hg38): 14:35045117-35116630

Previous symbols: [ "C14orf24" ]

Links

ENSG00000151327NCBI:283635OMIM:619181HGNC:19829Uniprot:Q8N128AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
3
missense
38
clinvar
2
clinvar
40
nonsense
1
clinvar
1
start loss
0
frameshift
2
clinvar
1
clinvar
3
splice donor/acceptor (+/-2bp)
0
Total 3 1 38 5 0

Highest pathogenic variant AF is 0.000008054493

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM177A1protein_codingprotein_codingENST00000280987 568224
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001180.8551257270211257480.0000835
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3021311221.080.000005731532
Missense in Polyphen4446.9660.93685604
Synonymous-0.8034841.41.160.00000195436
Loss of Function1.26610.40.5774.46e-7140

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003780.000378
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003530.0000352
Middle Eastern0.000.00
South Asian0.00009800.0000980
Other0.0001630.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam177a
Phenotype