SHE

Src homology 2 domain containing E, the group of SH2 domain containing

Basic information

Region (hg38): 1:154469771-154502412

Links

ENSG00000169291 ∙ NCBI:126669 ∙ OMIM:610482 ∙ HGNC:27004 ∙ Uniprot:Q5VZ18 ∙ 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 SHE gene.

• Inborn genetic diseases (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SHE 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in SHE

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

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

Position	Type	Phenotype	Significance	ClinVar
1-154484159-T-C		not specified	Uncertain significance (Jan 04, 2024)
1-154484313-T-C		not specified	Uncertain significance (Jul 12, 2023)
1-154485997-C-G		not specified	Uncertain significance (Feb 05, 2024)
1-154486003-T-C		not specified	Uncertain significance (Dec 12, 2023)
1-154486012-G-A		not specified	Uncertain significance (Jun 02, 2023)
1-154486567-C-T		not specified	Uncertain significance (Jul 14, 2022)
1-154486612-A-C		not specified	Uncertain significance (Sep 20, 2023)
1-154486662-C-T		not specified	Uncertain significance (Mar 16, 2022)
1-154489062-C-T		not specified	Uncertain significance (Aug 11, 2022)
1-154489110-G-C		not specified	Uncertain significance (Nov 17, 2023)
1-154489137-C-T		not specified	Uncertain significance (Oct 13, 2023)
1-154489189-G-A		not specified	Uncertain significance (Dec 07, 2021)
1-154489194-T-C		not specified	Uncertain significance (Mar 17, 2023)
1-154489201-T-C		not specified	Uncertain significance (Oct 25, 2023)
1-154489219-G-C		not specified	Uncertain significance (Dec 21, 2023)
1-154489245-C-T		not specified	Uncertain significance (Dec 02, 2022)
1-154489275-C-A		not specified	Uncertain significance (Aug 21, 2023)
1-154499195-C-T		not specified	Uncertain significance (Feb 05, 2024)
1-154501513-A-G		not specified	Uncertain significance (Nov 10, 2022)
1-154501540-T-C		not specified	Likely benign (Jan 23, 2023)
1-154501678-C-T		not specified	Uncertain significance (Jun 24, 2022)
1-154501717-A-C		not specified	Uncertain significance (Nov 30, 2021)
1-154501717-A-G		not specified	Uncertain significance (Nov 12, 2021)
1-154501744-C-A		not specified	Uncertain significance (Aug 17, 2022)
1-154501773-G-C		not specified	Uncertain significance (Aug 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SHE	protein_coding	protein_coding	ENST00000304760	6	32342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.989	0.0115	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.772	245	281	0.871	0.0000156	3176
Missense in Polyphen		52	80.228	0.64816		916
Synonymous	-0.0892	123	122	1.01	0.00000735	1020
Loss of Function	3.98	2	22.3	0.0898	0.00000136	237

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.0000547	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.370
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.82

Haploinsufficiency Scores

• pHI: 0.0695
• hipred: Y
• hipred_score: 0.739
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.385

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: She

Gene ontology

• Molecular function: phosphotyrosine residue binding;protein binding