ZNF107

protein-coding

zinc finger protein 107, the group of Zinc fingers C2H2-type|MicroRNA protein coding host genes

Gene summary

This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Previous symbols:

ZNF588

MANE transcript

NM_001282359.2

Inheritance

—

ClinVar variants

U:100B:20

Top phenotype

High myopia

gnomAD constraint

pLI —, LoF o/e 1.17

Max pathogenic AF

—

Genomic locus

chr7:64,666,099-64,711,577

External References & Databases

Ensembl (ENSG00000196247)

Transcript & Mutation Effects

hg38 • Region Span ~45.5 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 ZNF107 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 101

not providedTotal: 13

High myopiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001282359.2. 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				3 clinvar	3 clinvar	6
missense			96 clinvar	10 clinvar	2 clinvar	108
nonsense						0
start loss						0
frameshift			1 clinvar		2 clinvar	3
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	100	13	7	120

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001282359.2	RefSeq	NP_001269288.1	4	MANE Select
ENST00000620827.6	Ensembl	ENSP00000483720.1	4	MANE Select
NM_001013746.3	RefSeq	NP_001013768.1	2	Standard
NM_001282360.2	RefSeq	NP_001269289.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription by RNA polymerase II
biological_process

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
molecular_function
DNA binding
metal ion binding

Cellular Component

cellular_component
nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000395391
Coding exons: 2
Length: 44894
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.524	408	379	1.08	0.0000171	5174
Missense (PolyPhen)		111	113.26	0.98003		1644
Synonymous	0.120	130	132	0.987	0.00000602	1344
Loss of Function	-0.203	2	1.71	1.17	7.08e-8	27

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

LoFtool: 0.961
RVIS EVS: 0.16
RVIS percentile EVS: 64.85

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.283

Gene Damage Prediction

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