Evidence Details for PREPL
Basic Information Top
Gene Symbol: | PREPL ( FLJ16627,KIAA0436 ) |
---|---|
Gene Full Name: | prolyl endopeptidase-like |
Band: | 2p21 |
Quick Links | Entrez ID:9581; OMIM: 609557; Uniprot ID:PPCEL_HUMAN; ENSEMBL ID: ENSG00000138078; HGNC ID: 30228 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PREPL|9581|nucleotide
ATGCAGCAGAAGACCAAATTATTTCTCCAAGCTTTGAAGTATAGTATTCCTCACCTTGGAAAATGCATGCAGAAACAGCATTTGAATCACTATAACTTCGCTGAT
CATTGTTACAATAGAATAAAATTGAAAAAATATCACCTAACCAAGTGTCTTCAGAATAAACCCAAGATATCAGAGTTAGCAAGAAACATCCCAAGTCGGAGCTTC
TCATGTAAGGATCTTCAGCCTGTTAAACAAGAAAACGAAAAACCCCTTCCAGAAAACATGGATGCATTTGAAAAAGTGAGAACAAAATTAGAAACACAGCCACAA
GAAGAATATGAAATCATCAATGTGGAAGTTAAACATGGTGGTTTTGTTTATTACCAAGAAGGTTGTTGCTTGGTTCGTTCCAAAGATGAAGAAGCAGACAATGAT
AATTATGAAGTTTTATTCAATTTGGAGGAACTTAAGTTAGACCAGCCCTTCATTGATTGTATCAGAGTTGCTCCAGATGAAAAATATGTGGCTGCCAAGATAAGA
ACTGAAGATTCTGAAGCATCTACCTGTGTAATTATAAAGCTCAGCGATCAGCCCGTAATGGAAGCTTCTTTCCCGAATGTGTCCAGTTTTGAATGGGTAAAGGAC
GAGGAAGATGAAGATGTTTTATTCTACACCTTCCAGAGGAACCTTCGCTGTCATGACGTATATCGAGCCACTTTTGGTGATAACAAACGTAATGAACGCTTTTAC
ACAGAAAAAGACCCAAGCTACTTTGTTTTCCTTTATCTTACAAAAGACAGTCGTTTCCTCACCATAAATATTATGAACAAGACTACTTCTGAAGTGTGGTTGATA
GATGGCCTGAGCCCTTGGGACCCACCAGTACTTATCCAGAAGCGAATACATGGGGTCCTTTACTATGTTGAACACAGAGATGATGAATTATACATTCTCACTAAT
GTTGGAGAACCTACAGAATTTAAGCTCCCTCCTTGGGCCTGTGGATTCATAATGGATACAAATTCTGACCCAAAGAACTGCCCCTTTCAACTTTGCTCTCCAATA
CGTCCCCCAAAATATTACACATACAAGTTTGCAGAAGGCAAACTGTTTGAGGAAACTGGGCATGAAGACCCAATCACAAAGACTAGTCGCGTTTTACGTCTAGAA
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ATGCAGCAGAAGACCAAATTATTTCTCCAAGCTTTGAAGTATAGTATTCCTCACCTTGGAAAATGCATGCAGAAACAGCATTTGAATCACTATAACTTCGCTGAT
CATTGTTACAATAGAATAAAATTGAAAAAATATCACCTAACCAAGTGTCTTCAGAATAAACCCAAGATATCAGAGTTAGCAAGAAACATCCCAAGTCGGAGCTTC
TCATGTAAGGATCTTCAGCCTGTTAAACAAGAAAACGAAAAACCCCTTCCAGAAAACATGGATGCATTTGAAAAAGTGAGAACAAAATTAGAAACACAGCCACAA
GAAGAATATGAAATCATCAATGTGGAAGTTAAACATGGTGGTTTTGTTTATTACCAAGAAGGTTGTTGCTTGGTTCGTTCCAAAGATGAAGAAGCAGACAATGAT
AATTATGAAGTTTTATTCAATTTGGAGGAACTTAAGTTAGACCAGCCCTTCATTGATTGTATCAGAGTTGCTCCAGATGAAAAATATGTGGCTGCCAAGATAAGA
ACTGAAGATTCTGAAGCATCTACCTGTGTAATTATAAAGCTCAGCGATCAGCCCGTAATGGAAGCTTCTTTCCCGAATGTGTCCAGTTTTGAATGGGTAAAGGAC
GAGGAAGATGAAGATGTTTTATTCTACACCTTCCAGAGGAACCTTCGCTGTCATGACGTATATCGAGCCACTTTTGGTGATAACAAACGTAATGAACGCTTTTAC
ACAGAAAAAGACCCAAGCTACTTTGTTTTCCTTTATCTTACAAAAGACAGTCGTTTCCTCACCATAAATATTATGAACAAGACTACTTCTGAAGTGTGGTTGATA
GATGGCCTGAGCCCTTGGGACCCACCAGTACTTATCCAGAAGCGAATACATGGGGTCCTTTACTATGTTGAACACAGAGATGATGAATTATACATTCTCACTAAT
GTTGGAGAACCTACAGAATTTAAGCTCCCTCCTTGGGCCTGTGGATTCATAATGGATACAAATTCTGACCCAAAGAACTGCCCCTTTCAACTTTGCTCTCCAATA
CGTCCCCCAAAATATTACACATACAAGTTTGCAGAAGGCAAACTGTTTGAGGAAACTGGGCATGAAGACCCAATCACAAAGACTAGTCGCGTTTTACGTCTAGAA
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>PREPL|9581|protein
MQQKTKLFLQALKYSIPHLGKCMQKQHLNHYNFADHCYNRIKLKKYHLTKCLQNKPKISELARNIPSRSFSCKDLQPVKQENEKPLPENMDAFEKVRTKLETQPQ
EEYEIINVEVKHGGFVYYQEGCCLVRSKDEEADNDNYEVLFNLEELKLDQPFIDCIRVAPDEKYVAAKIRTEDSEASTCVIIKLSDQPVMEASFPNVSSFEWVKD
EEDEDVLFYTFQRNLRCHDVYRATFGDNKRNERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTTSEVWLIDGLSPWDPPVLIQKRIHGVLYYVEHRDDELYILTN
VGEPTEFKLPPWACGFIMDTNSDPKNCPFQLCSPIRPPKYYTYKFAEGKLFEETGHEDPITKTSRVLRLEAKSKDGKLVPMTVFHKTDSEDLQKKPLLVHVYGAY
GMDLKMNFRPERRVLVDDGWILAYCHVRGGGELGLQWHADGRLTKKLNGLADLEACIKTLHGQGFSQPSLTTLTAFSAGGVLAGALCNSNPELVRAVTLEAPFLD
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MQQKTKLFLQALKYSIPHLGKCMQKQHLNHYNFADHCYNRIKLKKYHLTKCLQNKPKISELARNIPSRSFSCKDLQPVKQENEKPLPENMDAFEKVRTKLETQPQ
EEYEIINVEVKHGGFVYYQEGCCLVRSKDEEADNDNYEVLFNLEELKLDQPFIDCIRVAPDEKYVAAKIRTEDSEASTCVIIKLSDQPVMEASFPNVSSFEWVKD
EEDEDVLFYTFQRNLRCHDVYRATFGDNKRNERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTTSEVWLIDGLSPWDPPVLIQKRIHGVLYYVEHRDDELYILTN
VGEPTEFKLPPWACGFIMDTNSDPKNCPFQLCSPIRPPKYYTYKFAEGKLFEETGHEDPITKTSRVLRLEAKSKDGKLVPMTVFHKTDSEDLQKKPLLVHVYGAY
GMDLKMNFRPERRVLVDDGWILAYCHVRGGGELGLQWHADGRLTKKLNGLADLEACIKTLHGQGFSQPSLTTLTAFSAGGVLAGALCNSNPELVRAVTLEAPFLD
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Evidence summary Top
Click 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 (1) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.734923 | Down | - | |||
| ||||||||||||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | - | autism | 6 (0.00%) |
0.764975 | Down | 0.0165673 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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