Evidence Details for PAG1
Basic Information Top
| Gene Symbol: | PAG1 ( CBP,FLJ37858,MGC138364,PAG ) |
|---|---|
| Gene Full Name: | phosphoprotein associated with glycosphingolipid microdomains 1 |
| Band: | 8q21.13 |
| Quick Links | Entrez ID:55824; OMIM: 605767; Uniprot ID:PAG1_HUMAN; ENSEMBL ID: ENSG00000076641; HGNC ID: 30043 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PAG1|55824|nucleotide
ATGGGGCCCGCGGGGAGCCTGCTGGGCAGCGGACAGATGCAGATCACCCTGTGGGGAAGTCTGGCTGCTGTCGCCATTTTCTTCGTCATCACCTTCCTCATCTTC
CTGTGCTCTAGTTGTGACAGGGAAAAGAAGCCGCGACAGCATAGTGGGGACCATGAGAACCTGATGAACGTGCCTTCAGACAAGGAGATGTTCAGCCGTTCAGTT
ACTAGCCTGGCAACAGATGCTCCTGCCAGCAGTGAGCAGAATGGGGCACTCACCAATGGGGACATTCTTTCAGAGGACAGTACTCTGACCTGCATGCAGCATTAC
GAGGAAGTCCAGACATCGGCCTCGGATCTGCTGGATTCCCAGGACAGCACAGGGAAACCAAAATGTCATCAGAGTCGGGAGCTGCCCAGAATCCCTCCCGAGAGC
GCAGTGGATACCATGCTCACGGCGAGAAGTGTGGACGGGGACCAGGGGCTGGGGATGGAAGGGCCCTATGAAGTGCTCAAGGACAGCTCCTCCCAAGAAAACATG
GTGGAGGACTGCTTGTATGAAACTGTGAAAGAGATCAAGGAGGTGGCTGCAGCTGCACACCTGGAGAAAGGCCACAGTGGCAAGGCAAAATCTACTTCTGCCTCG
AAAGAGCTCCCAGGGCCCCAGACTGAAGGCAAAGCTGAGTTTGCTGAATATGCCTCGGTGGACAGAAACAAAAAATGTCGTCAAAGTGTTAATGTAGAGAGTATC
CTTGGAAATTCATGTGATCCAGAAGAGGAGGCCCCACCACCTGTCCCTGTTAAGCTTCTGGACGAGAATGAAAACCTTCAGGAGAAGGAAGGGGGAGAGGCGGAA
GAGAGTGCCACAGACACGACCAGTGAAACTAACAAGAGATTTAGCTCATTGTCATACAAGTCTCGGGAAGAAGACCCCACTCTCACAGAAGAAGAGATCTCAGCT
ATGTACTCATCAGTAAATAAACCTGGACAGTTAGTGAATAAATCGGGGCAGTCGCTTACAGTTCCGGAGTCCACCTACACCTCCATTCAAGGGGACCCACAGAGG
TCACCCTCCTCCTGTAATGATCTCTATGCTACTGTTAAAGACTTCGAAAAAACTCCAAACAGCACACTTCCACCAGCAGGGAGGCCCAGCGAGGAGCCAGAGCCT
Show »
ATGGGGCCCGCGGGGAGCCTGCTGGGCAGCGGACAGATGCAGATCACCCTGTGGGGAAGTCTGGCTGCTGTCGCCATTTTCTTCGTCATCACCTTCCTCATCTTC
CTGTGCTCTAGTTGTGACAGGGAAAAGAAGCCGCGACAGCATAGTGGGGACCATGAGAACCTGATGAACGTGCCTTCAGACAAGGAGATGTTCAGCCGTTCAGTT
ACTAGCCTGGCAACAGATGCTCCTGCCAGCAGTGAGCAGAATGGGGCACTCACCAATGGGGACATTCTTTCAGAGGACAGTACTCTGACCTGCATGCAGCATTAC
GAGGAAGTCCAGACATCGGCCTCGGATCTGCTGGATTCCCAGGACAGCACAGGGAAACCAAAATGTCATCAGAGTCGGGAGCTGCCCAGAATCCCTCCCGAGAGC
GCAGTGGATACCATGCTCACGGCGAGAAGTGTGGACGGGGACCAGGGGCTGGGGATGGAAGGGCCCTATGAAGTGCTCAAGGACAGCTCCTCCCAAGAAAACATG
GTGGAGGACTGCTTGTATGAAACTGTGAAAGAGATCAAGGAGGTGGCTGCAGCTGCACACCTGGAGAAAGGCCACAGTGGCAAGGCAAAATCTACTTCTGCCTCG
AAAGAGCTCCCAGGGCCCCAGACTGAAGGCAAAGCTGAGTTTGCTGAATATGCCTCGGTGGACAGAAACAAAAAATGTCGTCAAAGTGTTAATGTAGAGAGTATC
CTTGGAAATTCATGTGATCCAGAAGAGGAGGCCCCACCACCTGTCCCTGTTAAGCTTCTGGACGAGAATGAAAACCTTCAGGAGAAGGAAGGGGGAGAGGCGGAA
GAGAGTGCCACAGACACGACCAGTGAAACTAACAAGAGATTTAGCTCATTGTCATACAAGTCTCGGGAAGAAGACCCCACTCTCACAGAAGAAGAGATCTCAGCT
ATGTACTCATCAGTAAATAAACCTGGACAGTTAGTGAATAAATCGGGGCAGTCGCTTACAGTTCCGGAGTCCACCTACACCTCCATTCAAGGGGACCCACAGAGG
TCACCCTCCTCCTGTAATGATCTCTATGCTACTGTTAAAGACTTCGAAAAAACTCCAAACAGCACACTTCCACCAGCAGGGAGGCCCAGCGAGGAGCCAGAGCCT
Show »
>PAG1|55824|protein
MGPAGSLLGSGQMQITLWGSLAAVAIFFVITFLIFLCSSCDREKKPRQHSGDHENLMNVPSDKEMFSRSVTSLATDAPASSEQNGALTNGDILSEDSTLTCMQHY
EEVQTSASDLLDSQDSTGKPKCHQSRELPRIPPESAVDTMLTARSVDGDQGLGMEGPYEVLKDSSSQENMVEDCLYETVKEIKEVAAAAHLEKGHSGKAKSTSAS
KELPGPQTEGKAEFAEYASVDRNKKCRQSVNVESILGNSCDPEEEAPPPVPVKLLDENENLQEKEGGEAEESATDTTSETNKRFSSLSYKSREEDPTLTEEEISA
MYSSVNKPGQLVNKSGQSLTVPESTYTSIQGDPQRSPSSCNDLYATVKDFEKTPNSTLPPAGRPSEEPEPDYEAIQTLNREEEKATLGTNGHHGLVPKENDYESI
SDLQQGRDITRL
Show »
MGPAGSLLGSGQMQITLWGSLAAVAIFFVITFLIFLCSSCDREKKPRQHSGDHENLMNVPSDKEMFSRSVTSLATDAPASSEQNGALTNGDILSEDSTLTCMQHY
EEVQTSASDLLDSQDSTGKPKCHQSRELPRIPPESAVDTMLTARSVDGDQGLGMEGPYEVLKDSSSQENMVEDCLYETVKEIKEVAAAAHLEKGHSGKAKSTSAS
KELPGPQTEGKAEFAEYASVDRNKKCRQSVNVESILGNSCDPEEEAPPPVPVKLLDENENLQEKEGGEAEESATDTTSETNKRFSSLSYKSREEDPTLTEEEISA
MYSSVNKPGQLVNKSGQSLTVPESTYTSIQGDPQRSPSSCNDLYATVKDFEKTPNSTLPPAGRPSEEPEPDYEAIQTLNREEEKATLGTNGHHGLVPKENDYESI
SDLQQGRDITRL
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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (2) |
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 | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2006_1 | Unknown | lymphoblastoid cell lines | 3 (-) | | | monozygotic twins with different severity | autism | 3 (-) |
0.74 | Up | - | |
| ||||||||||||
| Hu, 2006_1 | Unknown | lymphoblastoid cell lines | 3 (-) | | | monozygotic twins with different severity | autism | 3 (-) |
0.69 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.