STEAP1B

STEAP family member 1B, the group of STEAP family

Basic information

Region (hg38): 7:22419444-22727613

Links

ENSG00000105889 ∙ NCBI:256227 ∙ ∙ HGNC:41907 ∙ Uniprot:Q6NZ63 ∙ 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 STEAP1B gene.

• not_specified (37 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STEAP1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001382447.1. 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			36	1		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STEAP1B	protein_coding	protein_coding	ENST00000404369	4	213482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000124	0.621	125486	3	258	125747	0.00104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.423	151	166	0.908	0.00000738	2228
Missense in Polyphen		58	63.553	0.91263		881
Synonymous	0.362	58	61.6	0.941	0.00000304	638
Loss of Function	0.870	9	12.3	0.732	6.07e-7	146

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0119	0.0118
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00120	0.00120
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.00120	0.00120
South Asian	0.000621	0.000621
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.84
• rvis_percentile_EVS: 97.06

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Cellular component: endosome;plasma membrane;integral component of membrane