ZNF607

protein-coding

zinc finger protein 607, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrial inner membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032689.5

Inheritance

—

ClinVar variants

U:106B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr19:37,696,371-37,719,761

External References & Databases

Ensembl (ENSG00000198182)

Transcript & Mutation Effects

hg38 • Region Span ~23.4 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 ZNF607 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 108

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032689.5. 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				1 clinvar		1
missense			105 clinvar	4 clinvar	1 clinvar	110
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	106	5	1	112

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032689.5	RefSeq	NP_116078.4	4	MANE Select
ENST00000355202.9	Ensembl	ENSP00000347338.2	4	MANE Select
NM_001172677.1	RefSeq	NP_001166148.1	4	Standard
NM_001375895.1	RefSeq	NP_001362824.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription by RNA polymerase II

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000355202
Coding exons: 4
Length: 23428
Individuals with no LoFs: 125543
Homozygous LoFs: 0
Heterozygous LoFs: 205
Defined: 125748
p: 0.000815

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.207	395	384	1.03	0.0000187	4692
Missense (PolyPhen)		113	124.93	0.90451		1586
Synonymous	0.281	124	128	0.968	0.00000644	1193
Loss of Function	1.67	12	20.1	0.598	0.00000117	270

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0017	notable
Latino/Admixed American	0.00078	0.00078	rare
Ashkenazi Jewish	0.00079	0.00079	rare
East Asian	0.0011	0.0011	notable
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00075	0.00075	rare
South Asian	0.00092	0.00091	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.100

Intolerance Scores

RVIS EVS: -0.06
RVIS percentile EVS: 48.84

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.985

Gene Damage Prediction

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