Evidence Details for GFRA1
Basic Information Top
| Gene Symbol: | GFRA1 ( DKFZp313E1012,DKFZp686J0156,FLJ10561,FLJ31546,GDNFR,GDNFRA,GFR-ALPHA-1,MGC23045,RET1L,RETL1,TRNR1 ) |
|---|---|
| Gene Full Name: | GDNF family receptor alpha 1 |
| Band: | 10q25.3 |
| Quick Links | Entrez ID:2674; OMIM: 601496; Uniprot ID:GFRA1_HUMAN; ENSEMBL ID: ENSG00000151892; HGNC ID: 4243 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GFRA1|2674|nucleotide
ATGTTCCTGGCGACCCTGTACTTCGCGCTGCCGCTCTTGGACTTGCTCCTGTCGGCCGAAGTGAGCGGCGGAGACCGCCTGGATTGCGTGAAAGCCAGTGATCAG
TGCCTGAAGGAGCAGAGCTGCAGCACCAAGTACCGCACGCTAAGGCAGTGCGTGGCGGGCAAGGAGACCAACTTCAGCCTGGCATCCGGCCTGGAGGCCAAGGAT
GAGTGCCGCAGCGCCATGGAGGCCCTGAAGCAGAAGTCGCTCTACAACTGCCGCTGCAAGCGGGGTATGAAGAAGGAGAAGAACTGCCTGCGCATTTACTGGAGC
ATGTACCAGAGCCTGCAGGGAAATGATCTGCTGGAGGATTCCCCATATGAACCAGTTAACAGCAGATTGTCAGATATATTCCGGGTGGTCCCATTCATATCAGTG
GAGCACATTCCCAAAGGGAACAACTGCCTGGATGCAGCGAAGGCCTGCAACCTCGACGACATTTGCAAGAAGTACAGGTCGGCGTACATCACCCCGTGCACCACC
AGCGTGTCCAACGATGTCTGCAACCGCCGCAAGTGCCACAAGGCCCTCCGGCAGTTCTTTGACAAGGTCCCGGCCAAGCACAGCTACGGAATGCTCTTCTGCTCC
TGCCGGGACATCGCCTGCACAGAGCGGAGGCGACAGACCATCGTGCCTGTGTGCTCCTATGAAGAGAGGGAGAAGCCCAACTGTTTGAATTTGCAGGACTCCTGC
AAGACGAATTACATCTGCAGATCTCGCCTTGCGGATTTTTTTACCAACTGCCAGCCAGAGTCAAGGTCTGTCAGCAGCTGTCTAAAGGAAAACTACGCTGACTGC
CTCCTCGCCTACTCGGGGCTTATTGGCACAGTCATGACCCCCAACTACATAGACTCCAGTAGCCTCAGTGTGGCCCCATGGTGTGACTGCAGCAACAGTGGGAAC
GACCTAGAAGAGTGCTTGAAATTTTTGAATTTCTTCAAGGACAATACATGTCTTAAAAATGCAATTCAAGCCTTTGGCAATGGCTCCGATGTGACCGTGTGGCAG
CCAGCCTTCCCAGTACAGACCACCACTGCCACTACCACCACTGCCCTCCGGGTTAAGAACAAGCCCCTGGGGCCAGCAGGGTCTGAGAATGAAATTCCCACTCAT
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ATGTTCCTGGCGACCCTGTACTTCGCGCTGCCGCTCTTGGACTTGCTCCTGTCGGCCGAAGTGAGCGGCGGAGACCGCCTGGATTGCGTGAAAGCCAGTGATCAG
TGCCTGAAGGAGCAGAGCTGCAGCACCAAGTACCGCACGCTAAGGCAGTGCGTGGCGGGCAAGGAGACCAACTTCAGCCTGGCATCCGGCCTGGAGGCCAAGGAT
GAGTGCCGCAGCGCCATGGAGGCCCTGAAGCAGAAGTCGCTCTACAACTGCCGCTGCAAGCGGGGTATGAAGAAGGAGAAGAACTGCCTGCGCATTTACTGGAGC
ATGTACCAGAGCCTGCAGGGAAATGATCTGCTGGAGGATTCCCCATATGAACCAGTTAACAGCAGATTGTCAGATATATTCCGGGTGGTCCCATTCATATCAGTG
GAGCACATTCCCAAAGGGAACAACTGCCTGGATGCAGCGAAGGCCTGCAACCTCGACGACATTTGCAAGAAGTACAGGTCGGCGTACATCACCCCGTGCACCACC
AGCGTGTCCAACGATGTCTGCAACCGCCGCAAGTGCCACAAGGCCCTCCGGCAGTTCTTTGACAAGGTCCCGGCCAAGCACAGCTACGGAATGCTCTTCTGCTCC
TGCCGGGACATCGCCTGCACAGAGCGGAGGCGACAGACCATCGTGCCTGTGTGCTCCTATGAAGAGAGGGAGAAGCCCAACTGTTTGAATTTGCAGGACTCCTGC
AAGACGAATTACATCTGCAGATCTCGCCTTGCGGATTTTTTTACCAACTGCCAGCCAGAGTCAAGGTCTGTCAGCAGCTGTCTAAAGGAAAACTACGCTGACTGC
CTCCTCGCCTACTCGGGGCTTATTGGCACAGTCATGACCCCCAACTACATAGACTCCAGTAGCCTCAGTGTGGCCCCATGGTGTGACTGCAGCAACAGTGGGAAC
GACCTAGAAGAGTGCTTGAAATTTTTGAATTTCTTCAAGGACAATACATGTCTTAAAAATGCAATTCAAGCCTTTGGCAATGGCTCCGATGTGACCGTGTGGCAG
CCAGCCTTCCCAGTACAGACCACCACTGCCACTACCACCACTGCCCTCCGGGTTAAGAACAAGCCCCTGGGGCCAGCAGGGTCTGAGAATGAAATTCCCACTCAT
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>GFRA1|2674|protein
MFLATLYFALPLLDLLLSAEVSGGDRLDCVKASDQCLKEQSCSTKYRTLRQCVAGKETNFSLASGLEAKDECRSAMEALKQKSLYNCRCKRGMKKEKNCLRIYWS
MYQSLQGNDLLEDSPYEPVNSRLSDIFRVVPFISVEHIPKGNNCLDAAKACNLDDICKKYRSAYITPCTTSVSNDVCNRRKCHKALRQFFDKVPAKHSYGMLFCS
CRDIACTERRRQTIVPVCSYEEREKPNCLNLQDSCKTNYICRSRLADFFTNCQPESRSVSSCLKENYADCLLAYSGLIGTVMTPNYIDSSSLSVAPWCDCSNSGN
DLEECLKFLNFFKDNTCLKNAIQAFGNGSDVTVWQPAFPVQTTTATTTTALRVKNKPLGPAGSENEIPTHVLPPCANLQAQKLKSNVSGNTHLCISNGNYEKEGL
GASSHITTKSMAAPPSCGLSPLLVLVVTALSTLLSLTETS
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MFLATLYFALPLLDLLLSAEVSGGDRLDCVKASDQCLKEQSCSTKYRTLRQCVAGKETNFSLASGLEAKDECRSAMEALKQKSLYNCRCKRGMKKEKNCLRIYWS
MYQSLQGNDLLEDSPYEPVNSRLSDIFRVVPFISVEHIPKGNNCLDAAKACNLDDICKKYRSAYITPCTTSVSNDVCNRRKCHKALRQFFDKVPAKHSYGMLFCS
CRDIACTERRRQTIVPVCSYEEREKPNCLNLQDSCKTNYICRSRLADFFTNCQPESRSVSSCLKENYADCLLAYSGLIGTVMTPNYIDSSSLSVAPWCDCSNSGN
DLEECLKFLNFFKDNTCLKNAIQAFGNGSDVTVWQPAFPVQTTTATTTTALRVKNKPLGPAGSENEIPTHVLPPCANLQAQKLKSNVSGNTHLCISNGNYEKEGL
GASSHITTKSMAAPPSCGLSPLLVLVVTALSTLLSLTETS
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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 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) | | | AS | - (3-21) |
- >70 | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Vi?as-Jornet M, 2014 | Spain | aCGH | | | autism | - | - | - | - | 3 | - | 3 |
Linkage Studies Top