ZC3H7B

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

Basic information

Region (hg38): 22:41301525-41360147

Links

ENSG00000100403 ∙ NCBI:23264 ∙ OMIM:618206 ∙ HGNC:30869 ∙ Uniprot:Q9UGR2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZC3H7B gene.

• not_specified (105 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZC3H7B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017590.6. 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				2		2
missense			102	2		104
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	102	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZC3H7B	protein_coding	protein_coding	ENST00000352645	22	58626

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.929	0.0707	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.87	423	625	0.677	0.0000419	6416
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000337	0.000335
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000240	0.000231
European (Non-Finnish)	0.0000798	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.0000992	0.0000980
Other	0.000174	0.000163

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.757
• hipred: Y
• hipred_score: 0.532
• ghis: 0.624

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.162

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zc3h7b

Gene ontology

• Biological process: posttranscriptional regulation of gene expression;viral process;production of miRNAs involved in gene silencing by miRNA
• Cellular component: nucleus
• Molecular function: RNA binding;protein binding;miRNA binding;metal ion binding