TMEM121

transmembrane protein 121

Basic information

Region (hg38): 14:105526582-105530202

Links

ENSG00000184986 ∙ NCBI:80757 ∙ ∙ HGNC:20511 ∙ Uniprot:Q9BTD3 ∙ 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 TMEM121 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM121 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	2		12
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	2	0

Variants in TMEM121

This is a list of pathogenic ClinVar variants found in the TMEM121 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-105528981-C-A		not specified	Uncertain significance (Nov 15, 2021)
14-105529083-C-G		not specified	Uncertain significance (Jun 04, 2024)
14-105529240-T-G		not specified	Uncertain significance (Sep 30, 2021)
14-105529331-G-A		not specified	Likely benign (Apr 07, 2023)
14-105529351-T-A		not specified	Likely benign (Apr 07, 2023)
14-105529393-T-A		not specified	Uncertain significance (Mar 31, 2024)
14-105529459-A-T		not specified	Uncertain significance (Feb 27, 2023)
14-105529534-G-A		not specified	Uncertain significance (Mar 28, 2024)
14-105529558-G-A		not specified	Uncertain significance (Mar 19, 2024)
14-105529697-C-G		not specified	Uncertain significance (Jun 17, 2024)
14-105529705-A-C		not specified	Uncertain significance (Jan 05, 2022)
14-105529711-GTGC-G		Myoepithelial tumor	Uncertain significance (Nov 01, 2022)
14-105529733-T-C		not specified	Uncertain significance (Jul 20, 2022)
14-105529761-G-A		not specified	Uncertain significance (Apr 07, 2022)
14-105529763-C-T		not specified	Uncertain significance (Jun 27, 2023)
14-105529766-C-T		not specified	Uncertain significance (Nov 02, 2021)
14-105529769-C-T		not specified	Uncertain significance (Jan 30, 2024)
14-105529772-C-T		not specified	Uncertain significance (Apr 23, 2024)
14-105529784-T-G		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM121	protein_coding	protein_coding	ENST00000392519	1	3600

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.594	0.397	124561	0	10	124571	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.73	113	229	0.493	0.0000167	1967
Missense in Polyphen		40	93.15	0.42942		885
Synonymous	2.95	77	118	0.654	0.00000934	703
Loss of Function	2.11	1	7.04	0.142	3.03e-7	70

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	0.000163	0.000141
European (Non-Finnish)	0.0000475	0.0000445
Middle Eastern	0.00	0.00
South Asian	0.0000659	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in MAPK signaling. {ECO:0000269|PubMed:15950185}.

Recessive Scores

• pRec: 0.135

Haploinsufficiency Scores

• pHI: 0.297
• hipred: N
• hipred_score: 0.490
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0542

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem121

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function