TTYH1

tweety family member 1, the group of Tweety family

Basic information

Region (hg38): 19:54415218-54436904

Links

ENSG00000167614 ∙ NCBI:57348 ∙ OMIM:605784 ∙ HGNC:13476 ∙ Uniprot:Q9H313 ∙ 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 TTYH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTYH1 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			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	18	2	0

Variants in TTYH1

This is a list of pathogenic ClinVar variants found in the TTYH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-54415614-G-A		not specified	Uncertain significance (Apr 04, 2024)
19-54415617-C-T		not specified	Uncertain significance (Apr 25, 2022)
19-54419189-C-T		not specified	Uncertain significance (Mar 22, 2023)
19-54419195-A-G		not specified	Uncertain significance (Oct 12, 2022)
19-54419230-C-A		not specified	Uncertain significance (Apr 29, 2024)
19-54421360-A-G		not specified	Uncertain significance (Jul 06, 2022)
19-54421362-C-A		not specified	Uncertain significance (Jul 05, 2023)
19-54421378-T-C		not specified	Uncertain significance (Jun 12, 2023)
19-54422334-G-A		not specified	Uncertain significance (Apr 12, 2023)
19-54426673-G-A		not specified	Likely benign (Jul 17, 2023)
19-54426686-G-A		not specified	Uncertain significance (Jun 17, 2024)
19-54426719-C-G		not specified	Uncertain significance (Jul 05, 2023)
19-54429335-G-A		not specified	Uncertain significance (May 23, 2023)
19-54429336-T-C		not specified	Uncertain significance (Dec 28, 2023)
19-54429365-G-T		not specified	Uncertain significance (Mar 07, 2023)
19-54429377-G-A		not specified	Uncertain significance (Mar 27, 2023)
19-54429882-G-A		not specified	Uncertain significance (Jul 30, 2023)
19-54430567-C-T		not specified	Likely benign (Mar 29, 2022)
19-54430834-G-T		not specified	Uncertain significance (Mar 15, 2024)
19-54430862-T-G		not specified	Uncertain significance (May 02, 2023)
19-54435660-G-A		not specified	Uncertain significance (Nov 12, 2021)
19-54436100-C-T		not specified	Likely benign (Jan 24, 2024)
19-54436162-C-A		not specified	Uncertain significance (Sep 01, 2021)
19-54436162-C-T		not specified	Uncertain significance (Feb 26, 2024)
19-54436349-C-T		not specified	Uncertain significance (Nov 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTYH1	protein_coding	protein_coding	ENST00000376531	13	21688

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00461	125733	0	12	125745	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.384	241	258	0.933	0.0000144	2850
Missense in Polyphen		76	95.159	0.79866		1106
Synonymous	-0.643	133	124	1.07	0.00000743	1016
Loss of Function	4.24	2	24.7	0.0808	0.00000116	263

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000872	0.0000872
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000536	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable chloride channel. May be involved in cell adhesion (By similarity). {ECO:0000250}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.654
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.69

Haploinsufficiency Scores

• pHI: 0.459
• hipred: Y
• hipred_score: 0.549
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.169

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttyh1
• Phenotype: cellular phenotype; 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); embryo phenotype

Gene ontology

• Biological process: mitotic cell cycle;chloride transport;iron ion transport;cell-substrate adhesion;ion transmembrane transport;iron ion transmembrane transport;filopodium assembly;cell-cell adhesion;chloride transmembrane transport
• Cellular component: plasma membrane;integral component of membrane;smooth endoplasmic reticulum membrane;filopodium membrane;filopodium tip;chloride channel complex;synapse
• Molecular function: intracellular calcium activated chloride channel activity;chloride channel activity;iron ion transmembrane transporter activity;calcium ion binding;volume-sensitive chloride channel activity