ZCCHC7

zinc finger CCHC-type containing 7, the group of Zinc fingers CCHC-type

Basic information

Region (hg38): 9:37120574-37358149

Links

ENSG00000147905NCBI:84186HGNC:26209Uniprot:Q8N3Z6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZCCHC7 gene.

  • not_specified (68 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZCCHC7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032226.3. 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
1
clinvar
1
missense
62
clinvar
6
clinvar
68
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 62 7 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZCCHC7protein_codingprotein_codingENST00000336755 8237611
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.86e-90.9371256700781257480.000310
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3492732900.9420.00001503606
Missense in Polyphen10098.2391.01791229
Synonymous0.787921020.9010.00000523941
Loss of Function1.931829.30.6140.00000176348

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008160.000815
Ashkenazi Jewish0.000.00
East Asian0.0005500.000544
Finnish0.0006940.000693
European (Non-Finnish)0.0001850.000185
Middle Eastern0.0005500.000544
South Asian0.0001720.000163
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Pathway
RNA degradation - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.121

Intolerance Scores

loftool
0.928
rvis_EVS
-0.38
rvis_percentile_EVS
28.01

Haploinsufficiency Scores

pHI
0.120
hipred
N
hipred_score
0.146
ghis
0.663

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.713

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zcchc7
Phenotype

Zebrafish Information Network

Gene name
zcchc7
Affected structure
pharyngeal arch 3-7
Phenotype tag
abnormal
Phenotype quality
aplastic

Gene ontology

Biological process
Cellular component
nucleolus;cytosol
Molecular function
RNA binding;protein binding;zinc ion binding