ZNF738

zinc finger protein 738

Basic information

Region (hg38): 19:21358930-21388582

Links

ENSG00000172687 ∙ NCBI:148203 ∙ ∙ HGNC:32469 ∙ Uniprot:Q8NE65 ∙ 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 ZNF738 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF738 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF738	protein_coding	protein_coding	ENST00000311015	5	20373

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0420	0.856	125579	1	140	125720	0.000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.417	54	63.3	0.852	0.00000277	899
Missense in Polyphen		15	15.519	0.96657		243
Synonymous	-0.184	23	21.9	1.05	9.48e-7	239
Loss of Function	1.33	3	6.72	0.446	2.83e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000361	0.000340
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000677	0.000616
Middle Eastern	0.00	0.00
South Asian	0.00248	0.00206
Other	0.000197	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Haploinsufficiency Scores

• pHI: 0.0892
• hipred: N
• hipred_score: 0.148
• ghis: 0.512

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Gene ontology

• Biological process: protein polyubiquitination;regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;ubiquitin-protein transferase activity