ST7L

suppression of tumorigenicity 7 like

Basic information

Region (hg38): 1:112523514-112620825

Links

ENSG00000007341 ∙ NCBI:54879 ∙ OMIM:617640 ∙ HGNC:18441 ∙ Uniprot:Q8TDW4 ∙ 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 ST7L gene.

• not_specified (49 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST7L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017744.5. 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			46	3	2	51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	3	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ST7L	protein_coding	protein_coding	ENST00000358039	15	97308

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.20e-9	0.969	125649	2	96	125747	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.583	264	292	0.904	0.0000134	3692
Missense in Polyphen		131	143.85	0.91069		1904
Synonymous	-0.0983	109	108	1.01	0.00000505	1112
Loss of Function	2.14	19	32.1	0.592	0.00000152	420

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.000997
Ashkenazi Jewish	0.00	0.00
East Asian	0.000274	0.000272
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000425	0.000422
Middle Eastern	0.000274	0.000272
South Asian	0.000507	0.000457
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.990
• rvis_EVS: 1.91
• rvis_percentile_EVS: 97.39

Haploinsufficiency Scores

• pHI: 0.313
• hipred: N
• hipred_score: 0.237
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0461

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: St7l

Gene ontology

• Biological process: negative regulation of cell growth
• Cellular component: integral component of membrane