ZC3H7B

protein-coding

zinc finger CCCH-type containing 7B, the group of Tetratricopeptide repeat domain containing|Zinc fingers CCCH-type

Gene summary

This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]

MANE transcript

NM_017590.6

Inheritance

—

ClinVar variants

U:131B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr22:41,301,525-41,360,147

External References & Databases

Ensembl (ENSG00000100403)

Transcript & Mutation Effects

hg38 • Region Span ~58.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZC3H7B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 122

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017590.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			124 clinvar	2 clinvar		126
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	131	4	0	135

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017590.6	RefSeq	NP_060060.3	22	MANE Select
ENST00000352645.5	Ensembl	ENSP00000345793.4	22	MANE Select
ENST00000897616.1	Ensembl	ENSP00000567675.1	22	Standard
ENST00000897617.1	Ensembl	ENSP00000567676.1	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

posttranscriptional regulation of gene expression
viral process
production of miRNAs involved in gene silencing by miRNA

Molecular Function

RNA binding
protein binding
miRNA binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000352645
Coding exons: 22
Length: 58626
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 25
Defined: 125748
p: 0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.87	423	625	0.677	0.0000419	6416
Missense (PolyPhen)		80	205.99	0.38836		2168
Synonymous	1.16	247	271	0.910	0.0000201	1890
Loss of Function	5.44	10	52.5	0.190	0.00000260	578

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00024	0.00023	rare
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000099	0.000098	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 'ATA(A/T)' motif in the apical loop. {ECO:0000269|PubMed:28431233}.;

Recessive Scores

pRec: 0.0999

Intolerance Scores

LoFtool: 0.292
RVIS EVS: -1.19
RVIS percentile EVS: 5.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.162

Gene Damage Prediction

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