ZFTRAF1

zinc finger TRAF-type containing 1, the group of Ring finger proteins|Zinc fingers TRAF-type

Basic information

Region (hg38): 8:144449582-144462871

Previous symbols: [ "CYHR1" ]

Links

ENSG00000187954NCBI:50626OMIM:616635HGNC:17806Uniprot:P0DTL6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

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

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZFTRAF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFTRAF1 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
6
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 6 0 0

Variants in ZFTRAF1

This is a list of pathogenic ClinVar variants found in the ZFTRAF1 region.

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

Position Type Phenotype Significance ClinVar
8-144450430-CAG-C Neurodevelopmental disorder with hypotonia and gross motor and speech delay Likely pathogenic (-)2446709
8-144450507-CAA-C Neurodevelopmental disorder with hypotonia and gross motor and speech delay Pathogenic (-)2446444
8-144452428-G-A not specified Uncertain significance (Mar 06, 2023)2468782
8-144452572-T-G Neurodevelopmental disorder with hypotonia and gross motor and speech delay Pathogenic (-)2446443
8-144453277-G-A not specified Uncertain significance (Feb 16, 2023)2466815
8-144453351-T-C not specified Uncertain significance (Oct 06, 2024)3473580
8-144453385-C-T not specified Uncertain significance (Jul 16, 2024)3473579
8-144453422-G-C not specified Uncertain significance (Mar 18, 2024)3334575
8-144453426-A-G not specified Uncertain significance (Apr 13, 2023)2537082

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZFTRAF1protein_codingprotein_codingENST00000438911 516096
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4910.5081254320121254440.0000478
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.15962310.4160.00001482348
Missense in Polyphen1688.2820.18124834
Synonymous0.2861051090.9650.00000812736
Loss of Function2.83314.70.2047.37e-7155

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.0002010.000199
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00005360.0000529
Middle Eastern0.0001090.000109
South Asian0.00003270.0000327
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.767
rvis_EVS
-0.29
rvis_percentile_EVS
33.2

Haploinsufficiency Scores

pHI
0.149
hipred
N
hipred_score
0.439
ghis
0.601

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.473

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cyhr1
Phenotype

Gene ontology

Biological process
Cellular component
nucleoplasm;perinuclear region of cytoplasm
Molecular function
protein binding;zinc ion binding