OLIG1

oligodendrocyte transcription factor 1, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 21:33070141-33072413

Links

ENSG00000184221 ∙ NCBI:116448 ∙ OMIM:606385 ∙ HGNC:16983 ∙ Uniprot:Q8TAK6 ∙ 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 OLIG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLIG1 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in OLIG1

This is a list of pathogenic ClinVar variants found in the OLIG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-33070340-C-G		not specified	Uncertain significance (Dec 01, 2022)
21-33070344-A-G		not specified	Uncertain significance (Oct 22, 2021)
21-33070391-A-T		not specified	Uncertain significance (Sep 17, 2021)
21-33070505-G-C		not specified	Uncertain significance (Feb 06, 2024)
21-33070511-C-A		not specified	Uncertain significance (Nov 09, 2021)
21-33070529-C-T		not specified	Uncertain significance (Sep 06, 2022)
21-33070530-G-T		not specified	Uncertain significance (Jun 28, 2022)
21-33070536-A-C		not specified	Uncertain significance (Jun 11, 2021)
21-33070580-A-C		not specified	Uncertain significance (Jan 03, 2024)
21-33070739-G-A		not specified	Uncertain significance (Feb 28, 2024)
21-33070773-G-A		not specified	Uncertain significance (Sep 07, 2022)
21-33070869-T-C		not specified	Uncertain significance (Oct 22, 2021)
21-33070907-T-G		not specified	Uncertain significance (Jun 05, 2024)
21-33070937-C-A		not specified	Uncertain significance (Dec 17, 2023)
21-33070952-G-C		not specified	Uncertain significance (Sep 06, 2022)
21-33070962-C-G		not specified	Uncertain significance (Dec 13, 2021)
21-33070967-G-C		not specified	Uncertain significance (Nov 04, 2023)
21-33070968-G-C		not specified	Uncertain significance (Nov 04, 2023)
21-33070970-C-G		not specified	Uncertain significance (May 30, 2024)
21-33071004-C-A		not specified	Uncertain significance (Jul 26, 2022)
21-33071018-G-C		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OLIG1	protein_coding	protein_coding	ENST00000382348	1	2277

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.661	0.318	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.42	53	91.2	0.581	0.00000427	1616
Missense in Polyphen		12	34.139	0.3515		544
Synonymous	0.180	45	46.6	0.966	0.00000226	652
Loss of Function	1.74	0	3.51	0.00	1.50e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube (By similarity). {ECO:0000250, ECO:0000269|PubMed:10719889}.
• Pathway: Neural Crest Differentiation;TGF_beta_Receptor (Consensus)

Recessive Scores

• pRec: 0.201

Haploinsufficiency Scores

• pHI: 0.292
• hipred: N
• hipred_score: 0.367
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olig1
• Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;neuron fate commitment;oligodendrocyte differentiation
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;protein dimerization activity