TTYH3

tweety family member 3, the group of Tweety family

Basic information

Region (hg38): 7:2631961-2664802

Links

ENSG00000136295 ∙ NCBI:80727 ∙ OMIM:608919 ∙ HGNC:22222 ∙ Uniprot:Q9C0H2 ∙ 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 TTYH3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTYH3 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			33	1		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	1	0

Variants in TTYH3

This is a list of pathogenic ClinVar variants found in the TTYH3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-2632175-C-G		not specified	Uncertain significance (Dec 21, 2022)
7-2646930-G-T		not specified	Uncertain significance (Jul 22, 2022)
7-2646940-C-G		not specified	Uncertain significance (Sep 27, 2022)
7-2647003-A-G		not specified	Uncertain significance (Sep 19, 2022)
7-2647147-G-C		not specified	Uncertain significance (Dec 03, 2021)
7-2647197-A-G		not specified	Uncertain significance (Dec 27, 2023)
7-2647207-A-G		not specified	Uncertain significance (Sep 29, 2023)
7-2647222-C-G		not specified	Uncertain significance (Jan 04, 2024)
7-2647239-G-C		not specified	Uncertain significance (Apr 06, 2024)
7-2647421-T-C		not specified	Uncertain significance (Jun 30, 2023)
7-2647478-C-G		not specified	Uncertain significance (Apr 25, 2022)
7-2647478-C-T		not specified	Uncertain significance (Mar 31, 2023)
7-2647514-G-A		not specified	Uncertain significance (May 12, 2024)
7-2647587-C-T		not specified	Uncertain significance (Apr 20, 2023)
7-2649610-G-A		not specified	Uncertain significance (Sep 26, 2023)
7-2649637-G-T		not specified	Uncertain significance (Jun 07, 2024)
7-2649961-G-T		not specified	Uncertain significance (Nov 14, 2023)
7-2649964-G-A		not specified	Uncertain significance (Jul 26, 2022)
7-2649984-T-A		not specified	Uncertain significance (Jul 26, 2022)
7-2652204-C-G		not specified	Uncertain significance (Jun 01, 2023)
7-2652219-C-G		not specified	Uncertain significance (Jan 04, 2022)
7-2652219-C-T		not specified	Uncertain significance (Feb 16, 2023)
7-2652220-G-A		not specified	Uncertain significance (Jun 11, 2021)
7-2652225-G-A		not specified	Likely benign (Jan 02, 2024)
7-2656105-G-A		not specified	Uncertain significance (Dec 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTYH3	protein_coding	protein_coding	ENST00000258796	14	32852

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000836	125701	0	5	125706	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.807	291	332	0.875	0.0000224	3271
Missense in Polyphen		98	121.6	0.80594		1202
Synonymous	0.417	156	163	0.958	0.0000126	1057
Loss of Function	4.68	2	29.3	0.0682	0.00000143	305

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	0.0000515	0.0000462
European (Non-Finnish)	0.0000284	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. {ECO:0000269|PubMed:15010458}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.324
• rvis_EVS: -0.35
• rvis_percentile_EVS: 29.43

Haploinsufficiency Scores

• pHI: 0.207
• hipred: Y
• hipred_score: 0.595
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.777

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttyh3

Gene ontology

• Biological process: chloride transport;ion transmembrane transport;chloride transmembrane transport
• Cellular component: plasma membrane;chloride channel complex;extracellular exosome
• Molecular function: intracellular calcium activated chloride channel activity;chloride channel activity;volume-sensitive chloride channel activity