SAP30BP

SAP30 binding protein

Basic information

Region (hg38): 17:75667250-75708062

Links

ENSG00000161526 ∙ NCBI:29115 ∙ OMIM:610218 ∙ HGNC:30785 ∙ Uniprot:Q9UHR5 ∙ 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 SAP30BP gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAP30BP 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in SAP30BP

This is a list of pathogenic ClinVar variants found in the SAP30BP region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75667380-G-C		not specified	Uncertain significance (Oct 06, 2023)
17-75667382-A-C		not specified	Uncertain significance (Jun 30, 2022)
17-75668525-G-A		not specified	Uncertain significance (May 05, 2023)
17-75668580-T-G		not specified	Uncertain significance (Jun 07, 2023)
17-75671825-G-A		not specified	Uncertain significance (Dec 13, 2022)
17-75671838-A-C		not specified	Uncertain significance (Jun 23, 2023)
17-75671853-A-G		not specified	Uncertain significance (Jan 06, 2023)
17-75693464-G-A		not specified	Uncertain significance (Feb 15, 2023)
17-75699848-G-A		not specified	Uncertain significance (Aug 08, 2022)
17-75703848-A-G		not specified	Uncertain significance (Jun 06, 2023)
17-75706021-C-T		not specified	Uncertain significance (Feb 05, 2024)
17-75706050-G-C		not specified	Uncertain significance (Dec 06, 2022)
17-75706053-A-G		not specified	Uncertain significance (Apr 25, 2023)
17-75706394-C-G		not specified	Uncertain significance (Jul 09, 2021)
17-75706442-C-T		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SAP30BP	protein_coding	protein_coding	ENST00000584667	11	40947

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000114	0.990	125587	0	161	125748	0.000640

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.75	114	180	0.634	0.00000992	2013
Missense in Polyphen		36	70.315	0.51198		809
Synonymous	0.0159	69	69.2	0.998	0.00000428	568
Loss of Function	2.28	10	21.4	0.468	0.00000117	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00495	0.00496
European (Non-Finnish)	0.000339	0.000334
Middle Eastern	0.000109	0.000109
South Asian	0.0000656	0.0000653
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes. {ECO:0000250|UniProtKB:Q02614, ECO:0000269|PubMed:15496587}.
• Pathway: NoRC negatively regulates rRNA expression;Negative epigenetic regulation of rRNA expression;Epigenetic regulation of gene expression;Gene expression (Transcription) (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.461
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.354
• hipred: Y
• hipred_score: 0.602
• ghis: 0.555

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.985

Mouse Genome Informatics

• Gene name: Sap30bp
• Phenotype: hematopoietic system phenotype

Gene ontology

• Biological process: regulation of transcription, DNA-templated;apoptotic process;positive regulation of cell death
• Cellular component: nucleus;nucleoplasm;intermediate filament cytoskeleton
• Molecular function: protein binding