ZBED10P

zinc finger BED-type containing 10, pseudogene

Basic information

Region (hg38): 7:150329871-150331115

Previous symbols: [ "C7orf29", "ZBED6CL" ]

Links

ENSG00000188707 ∙ NCBI:113763 ∙ OMIM:615252 ∙ HGNC:21720 ∙ Uniprot:Q96FA7 ∙ 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 ZBED10P gene.

• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBED10P 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			4			4
Total	0	0	4	0	0

Variants in ZBED10P

This is a list of pathogenic ClinVar variants found in the ZBED10P region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150330541-T-G		not specified	Uncertain significance (Sep 14, 2021)
7-150330735-A-G		not specified	Uncertain significance (Mar 07, 2024)
7-150330765-A-G		not specified	Uncertain significance (May 06, 2024)
7-150330795-G-A		not specified	Uncertain significance (Aug 28, 2023)
7-150330819-A-C		not specified	Uncertain significance (Oct 03, 2022)
7-150330846-G-T		not specified	Uncertain significance (Jan 21, 2022)
7-150330880-C-A		not specified	Uncertain significance (Mar 11, 2024)
7-150330921-A-G		not specified	Likely benign (Dec 15, 2023)
7-150331096-C-A		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBED10P	protein_coding	protein_coding	ENST00000343855	1	2871

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00116	0.408	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0357	135	136	0.991	0.00000772	1519
Missense in Polyphen		31	36.154	0.85745		455
Synonymous	-0.219	64	61.8	1.04	0.00000374	483
Loss of Function	-0.239	4	3.52	1.14	1.50e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.47

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.146
• ghis: 0.416

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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