NIBAN1

protein-coding

niban apoptosis regulator 1

Gene summary

This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]

Previous symbols:

C1orf24
FAM129A

MANE transcript

NM_052966.4

Inheritance

—

ClinVar variants

U:165B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr1:184,790,724-184,974,508

External References & Databases

Ensembl (ENSG00000135842)

Transcript & Mutation Effects

hg38 • Region Span ~183.8 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 NIBAN1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 168

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052966.4. 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				1 clinvar	1 clinvar	2
missense			162 clinvar	12 clinvar	2 clinvar	176
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	165	13	3	181

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052966.4	RefSeq	NP_443198.1	14	MANE Select
ENST00000367511.4	Ensembl	ENSP00000356481.3	14	MANE Select
ENST00000417056.5	Ensembl	ENSP00000414039.1	4	Standard
ENST00000899938.1	Ensembl	ENSP00000569997.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of protein phosphorylation
positive regulation of protein phosphorylation
response to endoplasmic reticulum stress
positive regulation of translation

Molecular Function

molecular_function
protein binding

Cellular Component

cytoplasm
cytosol
plasma membrane
membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367511
Coding exons: 14
Length: 183825
Individuals with no LoFs: 125614
Homozygous LoFs: 0
Heterozygous LoFs: 134
Defined: 125748
p: 0.000533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.117	497	504	0.985	0.0000265	6084
Missense (PolyPhen)		126	145.68	0.86491		1895
Synonymous	-0.624	214	203	1.06	0.0000122	1752
Loss of Function	0.427	31	33.7	0.921	0.00000172	395

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0017	0.0017	notable
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.00059	0.00059	rare
South Asian	0.00036	0.00036	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0844

Intolerance Scores

LoFtool: 0.984
RVIS EVS: 1.21
RVIS percentile EVS: 93.05

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0522

Gene Damage Prediction

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