Evidence Details for PTCHD1
Basic Information Top
| Gene Symbol: | PTCHD1 ( FLJ30296,MGC149798 ) |
|---|---|
| Gene Full Name: | patched domain containing 1 |
| Band: | Xp22.11 |
| Quick Links | Entrez ID:139411; OMIM: NA; Uniprot ID:PTHD1_HUMAN; ENSEMBL ID: ENSG00000165186; HGNC ID: 26392 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PTCHD1|139411|nucleotide
ATGCTGCGGCAGGTTCTGCACAGGGGCTTGAGGACGTGTTTCTCCCGGCTCGGCCACTTCATTGCCAGTCACCCTGTCTTCTTCGCCTCGGCGCCGGTGCTCATC
TCCATCCTGCTCGGCGCCAGCTTCAGCCGCTACCAGGTCGAGGAGAGCGTGGAGCACCTGCTGGCGCCCCAGCACAGCCTGGCCAAGATCGAGCGCAACCTCGTT
AACAGCCTCTTCCCGGTCAACCGCTCCAAGCACCGTCTCTACTCGGACCTGCAGACCCCCGGGCGCTACGGCCGGGTCATCGTCACCTCCTTCCAGAAAGCCAAC
ATGCTGGACCAGCATCACACCGACCTGATCTTAAAGTTGCATGCTGCTGTCACCAAGATCCAGGTTCCAAGGCCTGGTTTTAATTACACGTTTGCCCATATATGT
ATCCTGAATAATGATAAGACTTGCATCGTGGATGACATAGTGCACGTCCTGGAAGAGCTAAAGAATGCTCGGGCCACCAATCGGACCAATTTTGCTATCACATAC
CCAATCACTCACTTAAAGGACGGGAGGGCTGTGTACAATGGGCACCAGCTTGGGGGCGTCACTGTGCACAGCAAAGACCGGGTGAAATCTGCAGAGGCCATCCAG
CTCACCTACTACCTGCAGTCAATCAACAGTCTCAATGACATGGTGGCTGAGAGGTGGGAGTCCAGCTTCTGCGACACTGTCAGACTGTTTCAGAAATCCAACAGC
AAAGTCAAAATGTACCCTTACACGTCCTCCTCACTGAGGGAAGATTTCCAGAAGACCAGCCGCGTATCAGAACGTTACCTGGTCACCAGCCTGATTCTGGTGGTT
ACCATGGCCATCCTGTGTTGCTCTATGCAGGACTGCGTCCGCAGCAAACCCTGGCTAGGCCTGCTCGGATTGGTGACCATAAGCCTGGCCACTCTCACTGCAGCC
GGGATCATCAATCTTACTGGTGGGAAATATAATTCCACCTTCCTGGGAGTCCCTTTCGTCATGCTAGGTCATGGATTATATGGGACTTTTGAAATGTTATCCTCC
TGGAGGAAAACTAGAGAAGACCAACATGTTAAAGAGAGAACTGCAGCAGTCTATGCAGACTCCATGCTCTCCTTTTCTCTCACCACTGCCATGTACCTGGTCACC
Show »
ATGCTGCGGCAGGTTCTGCACAGGGGCTTGAGGACGTGTTTCTCCCGGCTCGGCCACTTCATTGCCAGTCACCCTGTCTTCTTCGCCTCGGCGCCGGTGCTCATC
TCCATCCTGCTCGGCGCCAGCTTCAGCCGCTACCAGGTCGAGGAGAGCGTGGAGCACCTGCTGGCGCCCCAGCACAGCCTGGCCAAGATCGAGCGCAACCTCGTT
AACAGCCTCTTCCCGGTCAACCGCTCCAAGCACCGTCTCTACTCGGACCTGCAGACCCCCGGGCGCTACGGCCGGGTCATCGTCACCTCCTTCCAGAAAGCCAAC
ATGCTGGACCAGCATCACACCGACCTGATCTTAAAGTTGCATGCTGCTGTCACCAAGATCCAGGTTCCAAGGCCTGGTTTTAATTACACGTTTGCCCATATATGT
ATCCTGAATAATGATAAGACTTGCATCGTGGATGACATAGTGCACGTCCTGGAAGAGCTAAAGAATGCTCGGGCCACCAATCGGACCAATTTTGCTATCACATAC
CCAATCACTCACTTAAAGGACGGGAGGGCTGTGTACAATGGGCACCAGCTTGGGGGCGTCACTGTGCACAGCAAAGACCGGGTGAAATCTGCAGAGGCCATCCAG
CTCACCTACTACCTGCAGTCAATCAACAGTCTCAATGACATGGTGGCTGAGAGGTGGGAGTCCAGCTTCTGCGACACTGTCAGACTGTTTCAGAAATCCAACAGC
AAAGTCAAAATGTACCCTTACACGTCCTCCTCACTGAGGGAAGATTTCCAGAAGACCAGCCGCGTATCAGAACGTTACCTGGTCACCAGCCTGATTCTGGTGGTT
ACCATGGCCATCCTGTGTTGCTCTATGCAGGACTGCGTCCGCAGCAAACCCTGGCTAGGCCTGCTCGGATTGGTGACCATAAGCCTGGCCACTCTCACTGCAGCC
GGGATCATCAATCTTACTGGTGGGAAATATAATTCCACCTTCCTGGGAGTCCCTTTCGTCATGCTAGGTCATGGATTATATGGGACTTTTGAAATGTTATCCTCC
TGGAGGAAAACTAGAGAAGACCAACATGTTAAAGAGAGAACTGCAGCAGTCTATGCAGACTCCATGCTCTCCTTTTCTCTCACCACTGCCATGTACCTGGTCACC
Show »
>PTCHD1|139411|protein
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKAN
MLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQ
LTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAA
GIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHVKERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEG
Show »
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKAN
MLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQ
LTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAA
GIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHVKERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEG
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) | 2 (6) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 1 (1) | 16 (10) |
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 | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Addis L, 2015 | Canadian | aCGH | | | ASD | - | - | - | - | 3143 | 6469 | 9612 |
| Chaudhry A, 2015 | - | array | - | - | ASD | 16 | - | - | - | 23 | - | 23 |
| C Yuen RK, 2017 | - | WGS | | | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 2
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | |||||||||||
| Torrico B, 2015_2 | Unknown | - | | | ASD | - - |
- | 364 (-) |
- - | ||
| Torrico B, 2015_2 | Unknown | - | | | ASD | - - |
- | 364 (-) |
- - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.