GOT1L1

glutamic-oxaloacetic transaminase 1 like 1

Basic information

Region (hg38): 8:37934281-37940124

Links

ENSG00000169154 ∙ NCBI:137362 ∙ ∙ HGNC:28487 ∙ Uniprot:Q8NHS2 ∙ 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 GOT1L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOT1L1 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			30	1		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	2	0

Variants in GOT1L1

This is a list of pathogenic ClinVar variants found in the GOT1L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-37934369-T-C		not specified	Uncertain significance (Jan 17, 2024)
8-37934372-T-C		not specified	Uncertain significance (Sep 19, 2022)
8-37934388-T-C		not specified	Uncertain significance (May 01, 2024)
8-37934414-C-T		not specified	Uncertain significance (Mar 24, 2023)
8-37934417-C-G		not specified	Likely benign (Feb 15, 2025)
8-37934466-C-T		not specified	Uncertain significance (Dec 13, 2023)
8-37935109-C-T		not specified	Uncertain significance (Aug 19, 2021)
8-37935144-A-G		not specified	Uncertain significance (Jun 21, 2023)
8-37935749-C-T		not specified	Uncertain significance (Nov 17, 2022)
8-37935764-G-T		not specified	Uncertain significance (Sep 01, 2021)
8-37935784-C-G		not specified	Uncertain significance (Oct 21, 2024)
8-37936776-G-A		not specified	Uncertain significance (Jun 22, 2023)
8-37936794-A-T		not specified	Uncertain significance (Oct 12, 2024)
8-37936841-A-C		not specified	Uncertain significance (Apr 01, 2024)
8-37937015-C-G		not specified	Uncertain significance (Sep 29, 2023)
8-37937026-C-G		not specified	Uncertain significance (Mar 16, 2022)
8-37937368-A-C		not specified	Uncertain significance (May 18, 2023)
8-37937372-C-T		not specified	Likely benign (Nov 17, 2022)
8-37937668-G-A		not specified	Uncertain significance (Feb 19, 2025)
8-37937715-G-A		not specified	Uncertain significance (Jan 29, 2025)
8-37937719-C-T		not specified	Uncertain significance (Jan 31, 2024)
8-37938728-T-C		not specified	Uncertain significance (Sep 06, 2022)
8-37938753-C-T		not specified	Uncertain significance (Jun 16, 2023)
8-37938828-G-C		not specified	Uncertain significance (May 07, 2024)
8-37938843-C-T		not specified	Uncertain significance (Oct 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOT1L1	protein_coding	protein_coding	ENST00000307599	9	5849

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.18e-10	0.217	124436	0	207	124643	0.000831

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0417	221	219	1.01	0.0000105	2760
Missense in Polyphen		72	71.851	1.0021		967
Synonymous	0.342	79	83.0	0.952	0.00000422	785
Loss of Function	0.641	16	19.0	0.841	8.51e-7	229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00229	0.00229
Ashkenazi Jewish	0.00	0.00
East Asian	0.00363	0.00351
Finnish	0.0000501	0.0000464
European (Non-Finnish)	0.000188	0.000177
Middle Eastern	0.00363	0.00351
South Asian	0.00245	0.00219
Other	0.000519	0.000496

dbNSFP

Source: dbNSFP

• Pathway: Valproic Acid Pathway, Pharmacodynamics;Pathway_PA165964473;malate-aspartate shuttle;asparagine biosynthesis;aspartate biosynthesis;asparagine degradation (Consensus)

Intolerance Scores

• loftool: 0.578
• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.11

Haploinsufficiency Scores

• pHI: 0.0513
• hipred: N
• hipred_score: 0.146
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00730

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Got1l1

Gene ontology

• Biological process: aspartate biosynthetic process
• Cellular component: cytosol
• Molecular function: L-aspartate:2-oxoglutarate aminotransferase activity;pyridoxal phosphate binding