SELENOH

selenoprotein H, the group of Selenoproteins

Basic information

Region (hg38): 11:57741491-57743554

Previous symbols: [ "C11orf31" ]

Links

ENSG00000211450 ∙ NCBI:280636 ∙ OMIM:607914 ∙ HGNC:18251 ∙ Uniprot:Q8IZQ5 ∙ 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 SELENOH gene.

Variants pathogenicity by type

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

Variants in SELENOH

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

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

Position	Type	Phenotype	Significance	ClinVar
11-57741608-G-T		not specified	Uncertain significance (Sep 01, 2021)
11-57741810-A-C		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELENOH	protein_coding	protein_coding	ENST00000388857	3	2162

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00132	0.433	122249	7	691	122947	0.00284

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.934	78	58.0	1.34	0.00000259	742
Missense in Polyphen		29	21.038	1.3785		254
Synonymous	-0.622	30	26.0	1.16	0.00000120	244
Loss of Function	-0.143	4	3.70	1.08	1.56e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000414	0.000378
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000625	0.0000559
Finnish	0.0256	0.0224
European (Non-Finnish)	0.00200	0.00181
Middle Eastern	0.0000625	0.0000559
South Asian	0.000344	0.000297
Other	0.00136	0.00117

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in a redox-related process. {ECO:0000305}.
• Pathway: Selenium Micronutrient Network;Selenium Metabolism and Selenoproteins (Consensus)

Intolerance Scores

• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.170
• ghis: 0.629

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Selenoh

Zebrafish Information Network

• Gene name: selenoh
• Affected structure: hepatocyte
• Phenotype tag: abnormal
• Phenotype quality: ballooning

Gene ontology

• Cellular component: cytoplasm;Golgi apparatus
• Molecular function: RNA binding