ZNF136

zinc finger protein 136, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:12163063-12189871

Links

ENSG00000196646 ∙ NCBI:7695 ∙ OMIM:604078 ∙ HGNC:12920 ∙ Uniprot:P52737 ∙ 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 ZNF136 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF136 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			31	1		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	1	0

Variants in ZNF136

This is a list of pathogenic ClinVar variants found in the ZNF136 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-12185789-C-T		not specified	Uncertain significance (Jun 10, 2024)
19-12185800-G-A		not specified	Uncertain significance (Feb 09, 2023)
19-12185836-G-T		not specified	Uncertain significance (May 08, 2023)
19-12185852-C-T		not specified	Uncertain significance (May 07, 2024)
19-12185906-C-G		not specified	Uncertain significance (Apr 28, 2022)
19-12185908-A-G		not specified	Uncertain significance (Feb 21, 2024)
19-12186116-A-G		not specified	Uncertain significance (May 16, 2024)
19-12186119-A-G		not specified	Uncertain significance (Nov 10, 2022)
19-12186159-G-A		not specified	Likely benign (Aug 13, 2021)
19-12186577-A-G		not specified	Uncertain significance (Dec 03, 2021)
19-12186643-A-C		not specified	Uncertain significance (Feb 06, 2024)
19-12186678-A-C		not specified	Uncertain significance (Jun 09, 2022)
19-12186746-A-G		not specified	Uncertain significance (Nov 09, 2021)
19-12186755-G-T		not specified	Uncertain significance (Aug 02, 2021)
19-12186787-G-C		not specified	Uncertain significance (Mar 31, 2024)
19-12186877-C-T		not specified	Uncertain significance (May 03, 2023)
19-12186935-A-G		not specified	Uncertain significance (Feb 06, 2024)
19-12187049-A-G		not specified	Uncertain significance (Sep 26, 2023)
19-12187079-C-G		not specified	Uncertain significance (Mar 29, 2022)
19-12187097-G-A		not specified	Uncertain significance (Feb 06, 2023)
19-12187221-A-C		not specified	Uncertain significance (Jul 11, 2023)
19-12187261-T-G		Malignant tumor of prostate	Uncertain significance (-)
19-12187339-C-T		not specified	Uncertain significance (Oct 17, 2023)
19-12187351-C-G		not specified	Uncertain significance (Aug 13, 2021)
19-12187382-C-T		not specified	Uncertain significance (Feb 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF136	protein_coding	protein_coding	ENST00000343979	4	26186

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000479	0.690	125725	0	11	125736	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	231	293	0.789	0.0000141	3605
Missense in Polyphen		85	117	0.7265		1477
Synonymous	1.67	72	92.5	0.778	0.00000413	946
Loss of Function	0.812	6	8.56	0.701	3.60e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000202
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000349	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0949

Intolerance Scores

• loftool: 0.824
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.54

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.148
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.929

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;transcription corepressor activity;protein binding;metal ion binding