BTBD16

protein-coding

BTB domain containing 16, the group of BTB domain containing

Gene summary

This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]

Previous symbols:

C10orf87

MANE transcript

NM_144587.5

Inheritance

—

ClinVar variants

U:83B:12

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr10:122,271,296-122,338,159

External References & Databases

Ensembl (ENSG00000138152)

Transcript & Mutation Effects

hg38 • Region Span ~66.9 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 BTBD16 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 91

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144587.5. 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						0
missense			82 clinvar	12 clinvar		94
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	83	12	0	95

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144587.5	RefSeq	NP_653188.2	15	MANE Select
ENST00000260723.6	Ensembl	ENSP00000260723.4	15	MANE Select
NM_001318189.3	RefSeq	NP_001305118.1	15	Standard
XM_011539239.3	RefSeq	XP_011537541.1	14	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260723
Coding exons: 15
Length: 66857
Individuals with no LoFs: 125597
Homozygous LoFs: 0
Heterozygous LoFs: 151
Defined: 125748
p: 0.000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.356	265	282	0.940	0.0000157	3321
Missense (PolyPhen)		87	93.298	0.93249		1149
Synonymous	-1.30	130	113	1.16	0.00000665	927
Loss of Function	0.488	27	29.9	0.904	0.00000144	349

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00063	0.00062	rare
Latino/Admixed American	0.00040	0.00038	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00061	0.00060	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00093	0.00089	rare
South Asian	0.00024	0.00023	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0696

Intolerance Scores

LoFtool: 0.922
RVIS EVS: 0.6
RVIS percentile EVS: 82.9

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0377

Gene Damage Prediction

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