HSD11B1L

hydroxysteroid 11-beta dehydrogenase 1 like, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 19:5680604-5688523

Links

ENSG00000167733 ∙ NCBI:374875 ∙ ∙ HGNC:30419 ∙ Uniprot:Q7Z5J1 ∙ 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 HSD11B1L gene.

• not_specified (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD11B1L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198706.3. 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						0
missense			23			23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	23	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSD11B1L	protein_coding	protein_coding	ENST00000423665	7	7919

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000271	0.798	125485	0	28	125513	0.000112

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.46	136	193	0.704	0.0000117	1941
Missense in Polyphen		28	63.071	0.44394		671
Synonymous	1.69	71	91.5	0.776	0.00000618	691
Loss of Function	1.13	7	11.1	0.633	5.57e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000629	0.0000629
Ashkenazi Jewish	0.00162	0.00149
East Asian	0.0000564	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000750	0.0000706
Middle Eastern	0.0000564	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000185	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.281
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.238
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.474

Gene Damage Prediction

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

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: extracellular region;nucleoplasm;intracellular membrane-bounded organelle
• Molecular function: oxidoreductase activity