GTSF1L

gametocyte specific factor 1 like

Basic information

Region (hg38): 20:43726163-43727002

Previous symbols: [ "C20orf65", "FAM112A" ]

Links

ENSG00000124196 ∙ NCBI:149699 ∙ ∙ HGNC:16198 ∙ Uniprot:Q9H1H1 ∙ 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 GTSF1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GTSF1L 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in GTSF1L

This is a list of pathogenic ClinVar variants found in the GTSF1L region.

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

Position	Type	Phenotype	Significance	ClinVar
20-43726255-C-G		not specified	Uncertain significance (Dec 21, 2023)
20-43726259-G-A		not specified	Uncertain significance (May 14, 2024)
20-43726303-G-A		not specified	Uncertain significance (Dec 16, 2023)
20-43726378-A-G		not specified	Uncertain significance (Dec 11, 2023)
20-43726391-C-T		not specified	Uncertain significance (Feb 28, 2024)
20-43726445-T-C		not specified	Uncertain significance (Feb 28, 2024)
20-43726460-T-C		not specified	Uncertain significance (Dec 03, 2021)
20-43726506-A-C		not specified	Uncertain significance (Oct 25, 2023)
20-43726543-A-G		not specified	Uncertain significance (Feb 22, 2023)
20-43726612-G-A		not specified	Uncertain significance (Sep 16, 2021)
20-43726622-G-C		not specified	Uncertain significance (Dec 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GTSF1L	protein_coding	protein_coding	ENST00000373003	1	835

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00200	0.517	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0852	82	84.2	0.974	0.00000443	985
Missense in Polyphen		23	28.858	0.79702		361
Synonymous	0.259	34	36.0	0.945	0.00000242	271
Loss of Function	0.148	4	4.33	0.923	2.69e-7	47

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

Intolerance Scores

• loftool: 0.677
• rvis_EVS: 0.88
• rvis_percentile_EVS: 89.02

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gtsf1l

Gene ontology

• Molecular function: metal ion binding