SANBR

SANT and BTB domain regulator of CSR

Basic information

Region (hg38): 2:61065870-61138034

Previous symbols: [ "KIAA1841" ]

Links

ENSG00000162929 ∙ NCBI:84542 ∙ OMIM:620213 ∙ HGNC:29387 ∙ Uniprot:Q6NSI8 ∙ 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 SANBR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SANBR 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			39	3		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	0

Variants in SANBR

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

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

Position	Type	Phenotype	Significance	ClinVar
2-61070492-C-A		not specified	Uncertain significance (Sep 01, 2021)
2-61071630-A-G		not specified	Uncertain significance (Apr 22, 2022)
2-61071634-G-T		not specified	Uncertain significance (Dec 08, 2023)
2-61071651-G-A		not specified	Uncertain significance (Aug 30, 2021)
2-61071661-A-C		not specified	Uncertain significance (Jan 02, 2024)
2-61071738-A-G		not specified	Uncertain significance (Jun 16, 2023)
2-61071740-A-G		not specified	Uncertain significance (Jul 19, 2023)
2-61071790-C-T		not specified	Uncertain significance (Apr 04, 2023)
2-61076982-C-T		not specified	Uncertain significance (Jul 09, 2021)
2-61076985-G-A		not specified	Uncertain significance (Apr 06, 2023)
2-61076988-A-T		not specified	Uncertain significance (Nov 18, 2023)
2-61076996-A-G		not specified	Uncertain significance (Aug 14, 2023)
2-61077047-T-C		not specified	Uncertain significance (Apr 07, 2023)
2-61077050-G-A		not specified	Uncertain significance (Dec 14, 2022)
2-61077080-G-A		not specified	Uncertain significance (Apr 25, 2023)
2-61077093-A-G		not specified	Uncertain significance (Jun 16, 2024)
2-61077110-A-G		not specified	Likely benign (Feb 06, 2023)
2-61077149-C-T		not specified	Uncertain significance (Apr 27, 2023)
2-61083158-A-G		not specified	Uncertain significance (Sep 25, 2023)
2-61083254-C-T		not specified	Uncertain significance (Oct 30, 2023)
2-61083259-C-G		not specified	Uncertain significance (May 20, 2024)
2-61088185-G-A		not specified	Uncertain significance (Aug 16, 2021)
2-61088220-C-G		not specified	Uncertain significance (May 23, 2023)
2-61088397-A-T		not specified	Uncertain significance (Mar 29, 2022)
2-61088407-C-G		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SANBR	protein_coding	protein_coding	ENST00000402291	20	98955

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.59e-9	1.00	125687	0	58	125745	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.374	350	370	0.945	0.0000186	4722
Missense in Polyphen		94	113.87	0.82551		1444
Synonymous	0.0242	123	123	0.997	0.00000619	1252
Loss of Function	3.23	21	44.2	0.476	0.00000226	575

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000369	0.000368
Ashkenazi Jewish	0.00	0.00
East Asian	0.000226	0.000217
Finnish	0.0000937	0.0000924
European (Non-Finnish)	0.000252	0.000246
Middle Eastern	0.000226	0.000217
South Asian	0.000475	0.000392
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.177
• rvis_EVS: -0.78
• rvis_percentile_EVS: 13.05

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.492
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 0610010F05Rik