| Entrez Gene ID | 3547 |
|---|---|
| Official Gene Symbol | IGSF1 (GeneCards) |
| Full name | immunoglobulin superfamily member 1 |
| Location | Xq26.1 |
| Other ids | Vega : OTTHUMG00000022406 MIM : 300137 HGNC : HGNC:5948 Ensembl : ENSG00000147255 |
| Other names | CHTE, p120, IGCD1, IGDC1, INHBP, PGSF2 |
| Summary | This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22351 | 3547 | IGSF1 | X | 130441957 | 130441957 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22407 | 3547 | IGSF1 | X | 130628241 | 130628241 | Xeroderma Pigmentosum | HiSeq X Ten |
| 28848 | 3547 | IGSF1 | X | 130580537 | 130580537 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28862 | 3547 | IGSF1 | X | 130580537 | 130580537 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29946 | 3547 | IGSF1 | X | 130419865 | 130419865 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |
| 34624 | 3547 | IGSF1 | X | 130419389 | 130419389 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 Whole Genome Sequencing Ion Torrent PGM Sequencing |