TSPAN7 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TSPAN7 (HGNC:11854) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tetraspanin 7
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MXS1, TM4SF2, MRX58
- Alias symbols
- DXS1692E, TALLA-1, A15, CD231
- %HI
- 17.96(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.75(Read more about gnomAD pLI score)
- LOEUF
- 0.54(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.4
- Genomic Coordinates
-
GRCh37/hg19: chrX:38420795-38548172 NCBI Ensembl UCSC GRCh38/hg38: chrX:38561542-38688918 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004615.4 ENST00000378482.7 (Read more about MANE Select)
- Function
- May be involved in cell proliferation and cell motility. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked intellectual disability Monarch
-
PUBMED:
12070254
Abidi et al. (2002) provide a follow up report on a family originally reported by Holinski-Feder et al (PMID: 10449641) in which a frameshift variant, p.(Val191Glyfs*6), segregates with non-syndromic intellectual disability in 5 males. Two carrier females had normal intelligence.
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PUBMED:
10655063
Zemni et al. (2000, PMID: 10655063) report a female with intellectual disability and minor autistic features who had an apparently balanced t(X;2)(p11.4;p21.3) that disrupted TSPAN7. RT-PCR barely detected any transcripts. The authors also report a family with four males with non-syndromic intellectual disability and a nonsense mutation. This mutation is near the 3' end of the gene and RT-PCR showed normal transcription levels. The resulting protein lacks the fourth transmembrane segment and the carboxy-terminal domain. Additional clinical details on this family are provided in De Vos et al, PMID:12150222. Additionally, a missense mutation (P172H) was found in another family with X-linked intellectual disability. This family is further described by Gomot et al., PMID: 12376945. We are not counting the nonsense mutation as evidence from this report due to the normal transcription levels. We did not count the translocation since they did not map the breakpoint on chromosome 2 to show that there is no gene involved from that breakpoint.
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PUBMED:
26350204
Grozeva et al (2015) performed targeted NGS of 565 intellectual disability (ID)-associated genes on individuals with ID. Multiple TSPAN7 variants were identified, including missense changes and one frameshift. The frameshift change occurred in exon 2 of 8 (NM_004615) and was identified in a male.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.