ENST00000379361.5 PTCHD1

Information
Transcript ID
ENST00000379361.5
Genome
hg19
Position
chrX:23,352,966-23,422,491
Strand
+
CDS length
2,667
Amino acid length
889
Gene symbol
PTCHD1
Gene type
protein-coding
Gene description
patched domain containing 1
Gene Entrez Gene ID
139411
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 23,352,966 23,353,343
2 23,397,708 23,398,368
3 23,410,648 23,422,491
CDS
Exon number Type Start Stop
1 CDS 23,352,993 23,353,343
2 CDS 23,397,708 23,398,368
3 CDS 23,410,648 23,412,302
Other genome
Genome Chromosome Start End Links
hg38 chrX 23,334,849 23,404,374 Link
CDS sequence
ATGCTGCGGCAGGTTCTGCACAGGGGCTTGAGGACGTGTTTCTCCCGGCTCGGCCACTTCATTGCCAGTCACCCTGTCTTCTTCGCCTCGGCGCCGGTGCTCATCTCCATCCTGCTCGGCGCCAGCTTCAGCCGCTACCAGGTCGAGGAGAGCGTGGAGCACCTGCTGGCGCCCCAGCACAGCCTGGCCAAGATCGAGCGCAACCTCGTTAACAGCCTCTTCCCGGTCAACCGCTCCAAGCACCGTCTCTACTCGGACCTGCAGACCCCCGGGCGCTACGGCCGGGTCATCGTCACCTCCTTCCAGAAAGCCAACATGCTGGACCAGCATCACACCGACCTGATCTTAAAGTTGCATGCTGCTGTCACCAAGATCCAGGTTCCAAGGCCTGGTTTTAATTACACGTTTGCCCATATATGTATCCTGAATAATGATAAGACTTGCATCGTGGATGACATAGTGCACGTCCTGGAAGAGCTAAAGAATGCTCGGGCCACCAATCGGACCAATTTTGCTATCACATACCCAATCACTCACTTAAAGGACGGGAGGGCTGTGTACAATGGGCACCAGCTTGGGGGCGTCACTGTGCACAGCAAAGACCGGGTGAAATCTGCAGAGGCCATCCAGCTCACCTACTACCTGCAGTCAATCAACAGTCTCAATGACATGGTGGCTGAGAGGTGGGAGTCCAGCTTCTGCGACACTGTCAGACTGTTTCAGAAATCCAACAGCAAAGTCAAAATGTACCCTTACACGTCCTCCTCACTGAGGGAAGATTTCCAGAAGACCAGCCGCGTATCAGAACGTTACCTGGTCACCAGCCTGATTCTGGTGGTTACCATGGCCATCCTGTGTTGCTCTATGCAGGACTGCGTCCGCAGCAAACCCTGGCTAGGCCTGCTCGGATTGGTGACCATAAGCCTGGCCACTCTCACTGCAGCCGGGATCATCAATCTTACTGGTGGGAAATATAATTCCACCTTCCTGGGAGTCCCTTTCGTCATGCTAGGTCATGGATTATATGGGACTTTTGAAATGTTATCCTCCTGGAGGAAAACTAGAGAAGACCAACATGTTAAAGAGAGAACTGCAGCAGTCTATGCAGACTCCATGCTCTCCTTTTCTCTCACCACTGCCATGTACCTGGTCACCTTTGGCATAGGGGCCAGCCCTTTCACGAACATTGAGGCAGCCAGGATTTTCTGCTGCAATTCCTGTATTGCAATCTTCTTCAACTACCTCTATGTACTCTCGTTTTATGGTTCCAGCCTAGTGTTCACTGGCTACATAGAAAACAATTACCAGCATAGTATCTTCTGTAGAAAAGTCCCAAAGCCTGAGGCATTGCAGGAGAAGCCGGCATGGTACAGGTTTCTCCTGACGGCCAGATTCAGTGAGGACACAGCTGAAGGCGAGGAAGCGAACACTTACGAGAGTCACCTATTGGTATGTTTCCTCAAACGCTATTACTGTGACTGGATAACCAACACCTATGTCAAGCCTTTTGTAGTTCTCTTTTACCTTATTTATATTTCCTTTGCCTTAATGGGCTATCTGCAGGTCAGTGAAGGGTCAGACCTTAGTAACATTGTAGCAACCGCGACACAAACCATTGAGTACACTACTGCCCAGCAAAAGTACTTCAGCAACTACAGTCCTGTGATTGGGTTTTACATATATGAGTCTATAGAATACTGGAACACTAGTGTCCAAGAAGATGTTCTAGAATACACCAAGGGGTTTGTGCGGATATCCTGGTTTGAGAGCTATTTAAATTACCTTCGGAAACTCAATGTATCCACTGGCTTGCCTAAGAAAAATTTCACAGACATGTTGAGGAATTCCTTTCTGAAAGCCCCTCAATTTTCACATTTTCAAGAGGACATCATCTTCTCTAAAAAATACAATGATGAGGTCGATGTAGTGGCCTCCAGAATGTTTTTGGTGGCCAAGACCATGGAAACAAACAGAGAAGAACTCTATGATCTCTTGGAAACCCTGAGGAGACTTTCTGTCACCTCCAAGGTGAAGTTCATCGTCTTCAATCCGTCCTTTGTATACATGGATCGATATGCCTCCTCTCTGGGAGCCCCCCTGCACAACTCCTGCATCAGTGCTTTGTTCCTGCTCTTCTTCTCGGCATTCCTGGTGGCAGATTCACTGATTAACGTCTGGATCACTCTCACAGTTGTGTCCGTGGAGTTTGGAGTGATAGGTTTCATGACATTATGGAAAGTAGAACTGGACTGCATTTCTGTGCTATGCTTAATTTATGGAATTAATTACACAATTGACAATTGTGCTCCAATGTTATCCACATTTGTTCTGGGCAAGGATTTCACAAGAACTAAATGGGTAAAAAATGCCCTGGAAGTGCATGGGGTAGCTATTTTACAGAGTTACCTCTGCTATATTGTTGGTCTGATTCCTCTTGCAGCTGTGCCTTCAAATCTGACCTGTACACTGTTCAGGTGCTTGTTTTTAATAGCATTTGTCACCTTCTTTCACTGCTTTGCCATTTTACCTGTGATACTGACTTTCCTGCCACCCTCTAAGAAAAAAAGGAAAGAGAAGAAAAATCCTGAGAACCGGGAGGAAATTGAGTGTGTAGAAATGGTAGATATCGATAGTACCCGTGTGGTTGACCAAATTACAACAGTGTGA
Amino sequence
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHVKERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSFYGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIEYTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNVSTGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREELYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVADSLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKDFTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFAILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV*