PACC1

proton activated chloride channel 1

Basic information

Region (hg38): 1:212363928-212414901

Previous symbols: [ "C1orf75", "TMEM206" ]

Links

ENSG00000065600 ∙ NCBI:55248 ∙ OMIM:618427 ∙ HGNC:25593 ∙ Uniprot:Q9H813 ∙ 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 PACC1 gene.

• not_specified (64 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PACC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018252.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4			4
missense			52	1		53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PACC1	protein_coding	protein_coding	ENST00000535273	9	50971

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.41e-10	0.222	125109	2	637	125748	0.00254

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.450	215	234	0.917	0.0000134	2687
Missense in Polyphen		89	99.831	0.8915		1196
Synonymous	0.448	85	90.4	0.940	0.00000527	802
Loss of Function	0.652	16	19.1	0.839	8.13e-7	229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00462	0.00462
Ashkenazi Jewish	0.000894	0.000893
East Asian	0.000218	0.000217
Finnish	0.000740	0.000739
European (Non-Finnish)	0.00382	0.00380
Middle Eastern	0.000218	0.000217
South Asian	0.0000980	0.0000980
Other	0.00506	0.00506

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.367
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.0973
• hipred: N
• hipred_score: 0.204
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.519

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem206

Gene ontology

• Cellular component: cell surface;integral component of membrane