NIBAN1

niban apoptosis regulator 1

Basic information

Region (hg38): 1:184790723-184974508

Previous symbols: [ "C1orf24", "FAM129A" ]

Links

ENSG00000135842 ∙ NCBI:116496 ∙ OMIM:619294 ∙ HGNC:16784 ∙ Uniprot:Q9BZQ8 ∙ 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 NIBAN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NIBAN1 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					1	1
missense			56	5	2	63
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	56	5	3

Variants in NIBAN1

This is a list of pathogenic ClinVar variants found in the NIBAN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-184794982-C-T		not specified	Uncertain significance (Mar 04, 2024)
1-184795018-C-A		not specified	Uncertain significance (Apr 06, 2024)
1-184795033-C-T		not specified	Uncertain significance (Jul 05, 2022)
1-184795138-C-T		not specified	Uncertain significance (Jun 20, 2024)
1-184795152-G-A		not specified	Likely benign (Mar 04, 2024)
1-184795153-C-A		not specified	Uncertain significance (Oct 03, 2022)
1-184795202-A-T		not specified	Uncertain significance (Nov 01, 2022)
1-184795276-C-T			Benign (Dec 31, 2019)
1-184795321-G-A		not specified	Uncertain significance (Jun 16, 2023)
1-184795328-C-A		not specified	Uncertain significance (Sep 22, 2023)
1-184795332-A-T		not specified	Uncertain significance (Jan 11, 2023)
1-184795336-G-A		not specified	Uncertain significance (Dec 13, 2022)
1-184795354-T-C		not specified	Uncertain significance (Sep 26, 2023)
1-184795386-C-T		not specified	Uncertain significance (Oct 05, 2022)
1-184795393-C-A		not specified	Uncertain significance (Jun 03, 2022)
1-184795414-C-G		not specified	Uncertain significance (Dec 21, 2023)
1-184795429-C-T		not specified	Uncertain significance (May 16, 2024)
1-184795546-C-T		not specified	Likely benign (Aug 16, 2021)
1-184795563-G-A			Uncertain significance (-)
1-184795593-A-G		not specified	Uncertain significance (Feb 22, 2024)
1-184795647-G-A		not specified	Uncertain significance (Oct 04, 2022)
1-184795654-T-C		not specified	Uncertain significance (Jan 09, 2024)
1-184795687-C-G		not specified	Uncertain significance (Nov 03, 2022)
1-184795698-G-T		not specified	Uncertain significance (Nov 17, 2022)
1-184795735-G-A		not specified	Uncertain significance (Feb 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NIBAN1	protein_coding	protein_coding	ENST00000367511	14	183825

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.17e-20	0.00692	125614	0	134	125748	0.000533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.117	497	504	0.985	0.0000265	6084
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000687	0.000687
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.00174	0.00174
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000591	0.000589
Middle Eastern	0.00174	0.00174
South Asian	0.000360	0.000359
Other	0.000330	0.000326

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.533
• hipred: N
• hipred_score: 0.153
• ghis: 0.388

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0522

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam129a
• Phenotype: normal phenotype

Gene ontology

• Biological process: negative regulation of protein phosphorylation;positive regulation of protein phosphorylation;response to endoplasmic reticulum stress;positive regulation of translation
• Cellular component: cytoplasm;cytosol;plasma membrane;membrane;extracellular exosome
• Molecular function: molecular_function;protein binding