Evidence Details for PTTG1IP
Basic Information Top
| Gene Symbol: | PTTG1IP ( C21orf1,C21orf3,PBF ) |
|---|---|
| Gene Full Name: | pituitary tumor-transforming 1 interacting protein |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:754; OMIM: 603784; Uniprot ID:PTTG_HUMAN; ENSEMBL ID: ENSG00000183255; HGNC ID: 13524 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PTTG1IP|754|nucleotide
ATGGCGCCCGGAGTGGCCCGCGGGCCGACGCCGTACTGGAGGTTGCGCCTCGGTGGCGCCGCGCTGCTCCTGCTGCTCATCCCGGTGGCCGCCGCGCAGGAGCCT
CCCGGAGCTGCTTGTTCTCAGAACACAAACAAAACCTGTGAAGAGTGCCTGAAGAACGTCTCCTGTCTTTGGTGCAACACTAACAAGGCTTGTCTGGACTACCCA
GTTACAAGCGTCTTGCCACCGGCTTCCCTTTGTAAATTGAGCTCTGCACGCTGGGGAGTTTGTTGGGTGAACTTTGAGGCGCTGATCATCACCATGTCGGTAGTC
GGGGGAACCCTCCTCCTGGGCATTGCCATCTGCTGCTGCTGCTGCTGCAGGAGGAAGAGGAGCCGGAAGCCGGACAGGAGTGAGGAGAAGGCCATGCGTGAGCGG
GAGGAGAGGCGGATACGGCAGGAGGAACGGAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATGGCCTGTTTAAAGAAGAAAACCCGTATGCT
AGATTTGAAAACAACTAA
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ATGGCGCCCGGAGTGGCCCGCGGGCCGACGCCGTACTGGAGGTTGCGCCTCGGTGGCGCCGCGCTGCTCCTGCTGCTCATCCCGGTGGCCGCCGCGCAGGAGCCT
CCCGGAGCTGCTTGTTCTCAGAACACAAACAAAACCTGTGAAGAGTGCCTGAAGAACGTCTCCTGTCTTTGGTGCAACACTAACAAGGCTTGTCTGGACTACCCA
GTTACAAGCGTCTTGCCACCGGCTTCCCTTTGTAAATTGAGCTCTGCACGCTGGGGAGTTTGTTGGGTGAACTTTGAGGCGCTGATCATCACCATGTCGGTAGTC
GGGGGAACCCTCCTCCTGGGCATTGCCATCTGCTGCTGCTGCTGCTGCAGGAGGAAGAGGAGCCGGAAGCCGGACAGGAGTGAGGAGAAGGCCATGCGTGAGCGG
GAGGAGAGGCGGATACGGCAGGAGGAACGGAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATGGCCTGTTTAAAGAAGAAAACCCGTATGCT
AGATTTGAAAACAACTAA
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>PTTG1IP|754|protein
MAPGVARGPTPYWRLRLGGAALLLLLIPVAAAQEPPGAACSQNTNKTCEECLKNVSCLWCNTNKACLDYPVTSVLPPASLCKLSSARWGVCWVNFEALIITMSVV
GGTLLLGIAICCCCCCRRKRSRKPDRSEEKAMREREERRIRQEERRAEMKTRHDEIRKKYGLFKEENPYARFENN
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MAPGVARGPTPYWRLRLGGAALLLLLIPVAAAQEPPGAACSQNTNKTCEECLKNVSCLWCNTNKACLDYPVTSVLPPASLCKLSSARWGVCWVNFEALIITMSVV
GGTLLLGIAICCCCCCRRKRSRKPDRSEEKAMREREERRIRQEERRAEMKTRHDEIRKKYGLFKEENPYARFENN
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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 (2) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top