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SH2D1A
Basic information
- Official gene symbol
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SH2 domain containing 1A
- Conventional gene symbol
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DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1
- Classification
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Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Immune
- Signaling pathway
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Immune
- Chromosomal location
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Xq25 (chrX:123480493..123505241)
- Protein length
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128
Chromosome ideogram
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chrX:123480541 | G | T | 1 / 4 | p.E17* | c.49G>T | Tier2 | 1 / 18 |