Evidence Details for CSF2RA
Basic Information Top
| Gene Symbol: | CSF2RA ( CD116,CDw116,CSF2R,CSF2RAX,CSF2RAY,CSF2RX,CSF2RY,GM-CSF-R-alpha,GMCSFR,GMR,MGC3848,MGC4838 ) |
|---|---|
| Gene Full Name: | colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) |
| Band: | Xp22.32 and Yp11.3 |
| Quick Links | Entrez ID:1438; OMIM: 306250,425000; Uniprot ID:CSF2R_HUMAN; ENSEMBL ID: ENSG00000198223; HGNC ID: 2435 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CSF2RA|1438|nucleotide
ATGCTTCTCCTGGTGACAAGCCTTCTGCTCTGTGAGTTACCACACCCAGCATTCCTCCTGATCCCAGAGAAATCGGATCTGCGAACAGTGGCACCAGCCTCTAGT
CTCAATGTGAGGTTTGACTCCAGGACGATGAATTTAAGCTGGGACTGCCAAGAAAACACAACCTTCAGCAAGTGTTTCTTAACTGACAAGAAGAACAGAGTCGTG
GAACCCAGGCTCAGTAACAACGAATGTTCGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACTAGTCAAAGAGGATTT
CAACAGAAACTGCTTTATCCAAATTCAGGAAGGGAGGGTACCGCTGCTCAGAATTTCTCCTGTTTCATCTACAATGCGGATTTAATGAACTGTACCTGGGCGAGG
GGTCCGACGGCCCCCCGTGACGTCCAGTATTTTTTGTACATACGAAACTCAAAGAGAAGGAGGGAGATCCGGTGTCCTTATTACATACAAGACTCAGGAACCCAT
GTGGGATGTCACCTGGATAACCTGTCAGGATTAACGTCTCGCAATTACTTTCTGGTTAACGGAACCAGCCGAGAAATTGGCATCCAATTCTTTGATTCACTTTTG
GACACAAAGAAAATAGAACGATTCAACCCTCCCAGCAATGTCACCGTACGTTGCAACACGACGCACTGCCTCGTACGGTGGAAACAGCCCAGGACCTATCAGAAG
CTGTCGTACCTGGACTTTCAGTACCAGCTGGACGTCCACAGAAAGAATACCCAGCCTGGCACGGAAAACCTACTGATTAATGTTTCTGGTGATTTGGAAAATAGA
TACAACTTTCCAAGCTCTGAGCCCAGAGCAAAACACAGTGTGAAGATCAGAGCTGCAGACGTCCGCATCTTGAATTGGAGCTCCTGGAGTGAAGCCATTGAATTT
GGTTCTGACGACGGGAACCTCGGCTCTGTGTACATTTATGTGCTCCTAATCGTGGGAACCCTTGTCTGTGGCATCGTCCTCGGCTTCCTCTTTAAAAGGTTCCTT
AGGATACAGCGGCTGTTCCCGCCAGTTCCACAGATCAAAGACAAACTGAATGATAACCATGAGGTGGAAGACGAGATCATCTGGGAGGAATTCACCCCAGAGGAA
Show »
ATGCTTCTCCTGGTGACAAGCCTTCTGCTCTGTGAGTTACCACACCCAGCATTCCTCCTGATCCCAGAGAAATCGGATCTGCGAACAGTGGCACCAGCCTCTAGT
CTCAATGTGAGGTTTGACTCCAGGACGATGAATTTAAGCTGGGACTGCCAAGAAAACACAACCTTCAGCAAGTGTTTCTTAACTGACAAGAAGAACAGAGTCGTG
GAACCCAGGCTCAGTAACAACGAATGTTCGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACTAGTCAAAGAGGATTT
CAACAGAAACTGCTTTATCCAAATTCAGGAAGGGAGGGTACCGCTGCTCAGAATTTCTCCTGTTTCATCTACAATGCGGATTTAATGAACTGTACCTGGGCGAGG
GGTCCGACGGCCCCCCGTGACGTCCAGTATTTTTTGTACATACGAAACTCAAAGAGAAGGAGGGAGATCCGGTGTCCTTATTACATACAAGACTCAGGAACCCAT
GTGGGATGTCACCTGGATAACCTGTCAGGATTAACGTCTCGCAATTACTTTCTGGTTAACGGAACCAGCCGAGAAATTGGCATCCAATTCTTTGATTCACTTTTG
GACACAAAGAAAATAGAACGATTCAACCCTCCCAGCAATGTCACCGTACGTTGCAACACGACGCACTGCCTCGTACGGTGGAAACAGCCCAGGACCTATCAGAAG
CTGTCGTACCTGGACTTTCAGTACCAGCTGGACGTCCACAGAAAGAATACCCAGCCTGGCACGGAAAACCTACTGATTAATGTTTCTGGTGATTTGGAAAATAGA
TACAACTTTCCAAGCTCTGAGCCCAGAGCAAAACACAGTGTGAAGATCAGAGCTGCAGACGTCCGCATCTTGAATTGGAGCTCCTGGAGTGAAGCCATTGAATTT
GGTTCTGACGACGGGAACCTCGGCTCTGTGTACATTTATGTGCTCCTAATCGTGGGAACCCTTGTCTGTGGCATCGTCCTCGGCTTCCTCTTTAAAAGGTTCCTT
AGGATACAGCGGCTGTTCCCGCCAGTTCCACAGATCAAAGACAAACTGAATGATAACCATGAGGTGGAAGACGAGATCATCTGGGAGGAATTCACCCCAGAGGAA
Show »
>CSF2RA|1438|protein
MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGF
QQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLL
DTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEF
GSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT
Show »
MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGF
QQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLL
DTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEF
GSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Thomas, 1999 | - | FISH |  |  | autism | - | - | - | - | 3 | - | 3 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Laplana M, 2014 | - | aCGH | | | ASD | 1 | - | - | - | 1 | 5 | 6 |
Linkage Studies Top