TGFBR3L

transforming growth factor beta receptor 3 like

Basic information

Region (hg38): 19:7914830-7919097

Links

ENSG00000260001 ∙ NCBI:100507588 ∙ ∙ HGNC:44152 ∙ Uniprot:H3BV60 ∙ 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 TGFBR3L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TGFBR3L 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in TGFBR3L

This is a list of pathogenic ClinVar variants found in the TGFBR3L region.

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

Position	Type	Phenotype	Significance	ClinVar
19-7916394-C-G		not specified	Uncertain significance (Jan 17, 2024)
19-7916397-G-T		not specified	Likely benign (Dec 08, 2023)
19-7916461-T-C		not specified	Uncertain significance (Mar 11, 2024)
19-7916496-C-G		not specified	Uncertain significance (Jul 12, 2023)
19-7916530-G-T		not specified	Uncertain significance (Mar 27, 2023)
19-7916533-T-C		not specified	Uncertain significance (Aug 13, 2021)
19-7916623-C-T		not specified	Uncertain significance (Sep 22, 2023)
19-7916643-C-G		not specified	Uncertain significance (Jun 18, 2024)
19-7916671-G-C		not specified	Uncertain significance (Mar 23, 2023)
19-7916692-G-A		not specified	Uncertain significance (Jun 06, 2022)
19-7916707-C-G		not specified	Uncertain significance (Feb 14, 2024)
19-7916742-G-C		not specified	Uncertain significance (Jan 18, 2022)
19-7916769-C-T		not specified	Uncertain significance (Jun 24, 2022)
19-7916818-T-C		not specified	Uncertain significance (Apr 06, 2023)
19-7916851-T-C		not specified	Uncertain significance (Jan 12, 2024)
19-7916883-C-T		not specified	Uncertain significance (Jun 13, 2023)
19-7916889-G-C		not specified	Uncertain significance (Jun 24, 2022)
19-7917516-G-C		not specified	Uncertain significance (Oct 02, 2023)
19-7917597-C-G		not specified	Uncertain significance (Oct 27, 2021)
19-7917707-C-G		not specified	Uncertain significance (Aug 10, 2021)
19-7917761-C-T		not specified	Uncertain significance (Jan 07, 2022)
19-7918059-C-T		not specified	Uncertain significance (Apr 19, 2023)
19-7918102-C-T		not specified	Uncertain significance (Nov 05, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TGFBR3L	protein_coding	protein_coding	ENST00000565886	5	2953

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0845	0.771	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.674	93	113	0.822	0.00000533	1895
Missense in Polyphen		21	28.698	0.73176		566
Synonymous	0.854	46	54.0	0.852	0.00000274	785
Loss of Function	1.08	2	4.46	0.449	1.91e-7	86

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

Haploinsufficiency Scores

• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tgfbr3l

Gene ontology

• Cellular component: integral component of membrane