SANBR

protein-coding

SANT and BTB domain regulator of CSR

Gene summary

Predicted to enable identical protein binding activity. Predicted to be involved in isotype switching. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1841

MANE transcript

NM_001129993.3

Inheritance

—

ClinVar variants

U:97B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr2:61,065,871-61,138,034

External References & Databases

Ensembl (ENSG00000162929)

Transcript & Mutation Effects

hg38 • Region Span ~72.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SANBR variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 94

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001129993.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar			4
missense			91 clinvar	5 clinvar		96
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	97	5	0	102

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001129993.3	RefSeq	NP_001123465.1	20	MANE Select
ENST00000402291.6	Ensembl	ENSP00000385579.1	20	MANE Select
NM_001330432.2	RefSeq	NP_001317361.1	17	Standard
NM_001330433.2	RefSeq	NP_001317362.1	19	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000402291
Coding exons: 20
Length: 98955
Individuals with no LoFs: 125687
Homozygous LoFs: 0
Heterozygous LoFs: 58
Defined: 125745
p: 0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.374	350	370	0.945	0.0000186	4722
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00031	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00023	0.00022	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00025	0.00025	rare
South Asian	0.00047	0.00039	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.177
RVIS EVS: -0.78
RVIS percentile EVS: 13.05

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.104

Gene Damage Prediction

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