ZNF135

zinc finger protein 135, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:58059239-58086310

Previous symbols: [ "ZNF61", "ZNF78L1" ]

Links

ENSG00000176293 ∙ NCBI:7694 ∙ OMIM:604077 ∙ HGNC:12919 ∙ Uniprot:P52742 ∙ 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 ZNF135 gene.

• not_specified (84 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF135 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001289401.2. 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	5	7
missense			83	1	1	85
nonsense				1		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	4	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF135	protein_coding	protein_coding	ENST00000401053	4	27071

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.56e-12	0.338	125004	0	744	125748	0.00296

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0787	375	371	1.01	0.0000206	4508
Missense in Polyphen		132	135.06	0.97735		1698
Synonymous	-1.10	171	154	1.11	0.00000937	1271
Loss of Function	1.17	22	28.8	0.765	0.00000160	326

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00862	0.00857
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00207	0.00207
Finnish	0.000185	0.000185
European (Non-Finnish)	0.00399	0.00399
Middle Eastern	0.00207	0.00207
South Asian	0.00121	0.00121
Other	0.00424	0.00424

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation. {ECO:0000269|PubMed:21834987}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.160

Intolerance Scores

• loftool: 0.970
• rvis_EVS: 1.16
• rvis_percentile_EVS: 92.63

Haploinsufficiency Scores

• pHI: 0.197
• hipred: N
• hipred_score: 0.146
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0133

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;cytoskeleton organization;regulation of cell morphogenesis
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding