Evidence Details for PAM
Basic Information Top
| Gene Symbol: | PAM ( PAL,PHM ) |
|---|---|
| Gene Full Name: | peptidylglycine alpha-amidating monooxygenase |
| Band: | 5q21.1 |
| Quick Links | Entrez ID:5066; OMIM: 170270; Uniprot ID:AMD_HUMAN; ENSEMBL ID: ENSG00000145730; HGNC ID: 8596 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PAM|5066|nucleotide
ATGGCTGGCCGCGTCCCTAGCCTGCTAGTTCTCCTTGTTTTTCCAAGCAGCTGTTTGGCTTTCCGAAGCCCACTTTCTGTCTTTAAGAGGTTTAAAGAAACTACC
AGACCATTTTCCAATGAATGTCTTGGTACCACCAGACCCGTAGTTCCTATTGATTCATCAGATTTTGCATTGGATATTCGCATGCCTGGGGTTACACCTAAACAG
TCCGATACATACTTCTGCATGTCTATGCGAATACCAGTGGATGAGGAAGCCTTCGTGATTGACTTCAAGCCTCGAGCCAGCATGGATACTGTCCATCACATGTTA
CTTTTTGGATGCAATATGCCTTCATCCACTGGAAGTTACTGGTTTTGTGATGAAGGAACCTGTACAGATAAAGCCAATATTCTGTATGCCTGGGCGAGAAATGCT
CCCCCTACCCGGCTCCCCAAAGGTGTTGGATTCAGAGTTGGAGGAGAGACTGGAAGTAAATACTTTGTACTACAGGTACACTATGGGGATATTAGTGCTTTTAGA
GATAATAACAAGGACTGTTCTGGTGTGTCCTTACACCTCACACGTCTGCCACAGCCTTTAATTGCTGGCATGTACCTTATGATGTCTGTTGACACTGTTATCCCA
GCAGGAGAAAAAGTGGTGAATTCTGACATTTCATGCCATTATAAAAATTATCCAATGCATGTCTTTGCCTATAGAGTTCACACTCACCATTTAGGTAAGGTAGTA
AGTGGATACAGAGTAAGAAATGGACAGTGGACACTGATTGGACGGCAGAGCCCTCAGCTGCCACAGGCTTTCTACCCTGTGGGGCATCCAGTTGATGTAAGTTTT
GGTGACCTACTGGCTGCAAGATGTGTATTCACTGGTGAAGGAAGGACAGAAGCCACACACATTGGTGGCACGTCTAGTGATGAAATGTGCAACTTATACATTATG
TATTACATGGAAGCCAAGCATGCAGTTTCTTTCATGACCTGTACCCAGAATGTAGCTCCAGATATGTTCAGAACCATACCACCAGAGGCCAACATTCCAATTCCC
GTGAAGTCTGATATGGTTATGATGCATGAACATCATAAAGAAACAGAATATAAAGATAAGATTCCTTTACTACAGCAGCCAAAACGAGAAGAAGAAGAAGTGTTA
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ATGGCTGGCCGCGTCCCTAGCCTGCTAGTTCTCCTTGTTTTTCCAAGCAGCTGTTTGGCTTTCCGAAGCCCACTTTCTGTCTTTAAGAGGTTTAAAGAAACTACC
AGACCATTTTCCAATGAATGTCTTGGTACCACCAGACCCGTAGTTCCTATTGATTCATCAGATTTTGCATTGGATATTCGCATGCCTGGGGTTACACCTAAACAG
TCCGATACATACTTCTGCATGTCTATGCGAATACCAGTGGATGAGGAAGCCTTCGTGATTGACTTCAAGCCTCGAGCCAGCATGGATACTGTCCATCACATGTTA
CTTTTTGGATGCAATATGCCTTCATCCACTGGAAGTTACTGGTTTTGTGATGAAGGAACCTGTACAGATAAAGCCAATATTCTGTATGCCTGGGCGAGAAATGCT
CCCCCTACCCGGCTCCCCAAAGGTGTTGGATTCAGAGTTGGAGGAGAGACTGGAAGTAAATACTTTGTACTACAGGTACACTATGGGGATATTAGTGCTTTTAGA
GATAATAACAAGGACTGTTCTGGTGTGTCCTTACACCTCACACGTCTGCCACAGCCTTTAATTGCTGGCATGTACCTTATGATGTCTGTTGACACTGTTATCCCA
GCAGGAGAAAAAGTGGTGAATTCTGACATTTCATGCCATTATAAAAATTATCCAATGCATGTCTTTGCCTATAGAGTTCACACTCACCATTTAGGTAAGGTAGTA
AGTGGATACAGAGTAAGAAATGGACAGTGGACACTGATTGGACGGCAGAGCCCTCAGCTGCCACAGGCTTTCTACCCTGTGGGGCATCCAGTTGATGTAAGTTTT
GGTGACCTACTGGCTGCAAGATGTGTATTCACTGGTGAAGGAAGGACAGAAGCCACACACATTGGTGGCACGTCTAGTGATGAAATGTGCAACTTATACATTATG
TATTACATGGAAGCCAAGCATGCAGTTTCTTTCATGACCTGTACCCAGAATGTAGCTCCAGATATGTTCAGAACCATACCACCAGAGGCCAACATTCCAATTCCC
GTGAAGTCTGATATGGTTATGATGCATGAACATCATAAAGAAACAGAATATAAAGATAAGATTCCTTTACTACAGCAGCCAAAACGAGAAGAAGAAGAAGTGTTA
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>PAM|5066|protein
MAGRVPSLLVLLVFPSSCLAFRSPLSVFKRFKETTRPFSNECLGTTRPVVPIDSSDFALDIRMPGVTPKQSDTYFCMSMRIPVDEEAFVIDFKPRASMDTVHHML
LFGCNMPSSTGSYWFCDEGTCTDKANILYAWARNAPPTRLPKGVGFRVGGETGSKYFVLQVHYGDISAFRDNNKDCSGVSLHLTRLPQPLIAGMYLMMSVDTVIP
AGEKVVNSDISCHYKNYPMHVFAYRVHTHHLGKVVSGYRVRNGQWTLIGRQSPQLPQAFYPVGHPVDVSFGDLLAARCVFTGEGRTEATHIGGTSSDEMCNLYIM
YYMEAKHAVSFMTCTQNVAPDMFRTIPPEANIPIPVKSDMVMMHEHHKETEYKDKIPLLQQPKREEEEVLDQGDFYSLLSKLLGEREDVVHVHKYNPTEKAESES
DLVAEIANVVQKKDLGRSDAREGAEHERGNAILVRDRIHKFHRLVSTLRPPESRVFSLQQPPPGEGTWEPEHTGDFHMEEALDWPGVYLLPGQVSGVALDPKNNL
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MAGRVPSLLVLLVFPSSCLAFRSPLSVFKRFKETTRPFSNECLGTTRPVVPIDSSDFALDIRMPGVTPKQSDTYFCMSMRIPVDEEAFVIDFKPRASMDTVHHML
LFGCNMPSSTGSYWFCDEGTCTDKANILYAWARNAPPTRLPKGVGFRVGGETGSKYFVLQVHYGDISAFRDNNKDCSGVSLHLTRLPQPLIAGMYLMMSVDTVIP
AGEKVVNSDISCHYKNYPMHVFAYRVHTHHLGKVVSGYRVRNGQWTLIGRQSPQLPQAFYPVGHPVDVSFGDLLAARCVFTGEGRTEATHIGGTSSDEMCNLYIM
YYMEAKHAVSFMTCTQNVAPDMFRTIPPEANIPIPVKSDMVMMHEHHKETEYKDKIPLLQQPKREEEEVLDQGDFYSLLSKLLGEREDVVHVHKYNPTEKAESES
DLVAEIANVVQKKDLGRSDAREGAEHERGNAILVRDRIHKFHRLVSTLRPPESRVFSLQQPPPGEGTWEPEHTGDFHMEEALDWPGVYLLPGQVSGVALDPKNNL
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 3
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) |  | | autism | autism | 12 (25.00%) |
1.762 | Up | 0.0181 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.844 | Up | 0.0279 | |
| ||||||||||||
| Gregg, 2008_3 | mixed | lymphoblastoid cell lines | 18 (16.67%) | | | autism with regression | autism | 12 (25.00%) |
1.712 | Up | 0.0471 | |
| ||||||||||||
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 Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS 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.