ENST00000447098.6 PTCH2

Information
Transcript ID
ENST00000447098.6
Genome
hg38
Position
chr1:44,819,844-44,842,944
Strand
-
CDS length
3,441
Amino acid length
1,147
Gene symbol
PTCH2
Gene type
protein-coding
Gene description
patched 2
Gene Entrez Gene ID
8643
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 :
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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 :
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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
23 44,819,844 44,820,704
22 44,822,602 44,822,669
21 44,823,069 44,823,168
20 44,823,243 44,823,385
19 44,826,250 44,826,387
18 44,826,488 44,826,768
17 44,826,902 44,827,082
16 44,827,167 44,827,309
15 44,827,402 44,827,714
14 44,827,843 44,828,191
13 44,828,296 44,828,414
12 44,828,506 44,828,631
11 44,828,982 44,829,074
10 44,829,157 44,829,312
9 44,829,402 44,829,533
8 44,829,614 44,829,761
7 44,829,909 44,830,030
6 44,830,848 44,831,043
5 44,831,706 44,831,797
4 44,831,975 44,832,044
3 44,832,152 44,832,341
2 44,841,847 44,842,039
1 44,842,861 44,842,944
CDS
Exon number Type Start Stop
23 CDS 44,820,689 44,820,704
22 CDS 44,822,602 44,822,669
21 CDS 44,823,069 44,823,168
20 CDS 44,823,243 44,823,385
19 CDS 44,826,250 44,826,387
18 CDS 44,826,488 44,826,768
17 CDS 44,826,902 44,827,082
16 CDS 44,827,167 44,827,309
15 CDS 44,827,402 44,827,714
14 CDS 44,827,843 44,828,191
13 CDS 44,828,296 44,828,414
12 CDS 44,828,506 44,828,631
11 CDS 44,828,982 44,829,074
10 CDS 44,829,157 44,829,312
9 CDS 44,829,402 44,829,533
8 CDS 44,829,614 44,829,761
7 CDS 44,829,909 44,830,030
6 CDS 44,830,848 44,831,043
5 CDS 44,831,706 44,831,797
4 CDS 44,831,975 44,832,044
3 CDS 44,832,152 44,832,341
2 CDS 44,841,847 44,842,039
1 CDS 44,842,861 44,842,932
Other genome
Genome Chromosome Start End Links
hg19 chr1 45,285,516 45,308,616 Link
CDS sequence
ATGACTCGATCGCCGCCCCTCAGAGAGCTGCCCCCGAGTTACACACCCCCAGCTCGAACCGCAGCACCCCAGATCCTAGCTGGGAGCCTGAAGGCTCCACTCTGGCTTCGTGCTTACTTCCAGGGCCTGCTCTTCTCTCTGGGATGCGGGATCCAGAGACATTGTGGCAAAGTGCTCTTTCTGGGACTGTTGGCCTTTGGGGCCCTGGCATTAGGTCTCCGCATGGCCATTATTGAGACAAACTTGGAACAGCTCTGGGTAGAAGTGGGCAGCCGGGTGAGCCAGGAGCTGCATTACACCAAGGAGAAGCTGGGGGAGGAGGCTGCATACACCTCTCAGATGCTGATACAGACCGCACGCCAGGAGGGAGAGAACATCCTCACACCCGAAGCACTTGGCCTCCACCTCCAGGCAGCCCTCACTGCCAGTAAAGTCCAAGTATCACTCTATGGGAAGTCCTGGGATTTGAACAAAATCTGCTACAAGTCAGGAGTTCCCCTTATTGAAAATGGAATGATTGAGCGGATGATTGAGAAGCTGTTTCCGTGCGTGATCCTCACCCCCCTCGACTGCTTCTGGGAGGGAGCCAAACTCCAAGGGGGCTCCGCCTACCTGCCCGGCCGCCCGGATATCCAGTGGACCAACCTGGATCCAGAGCAGCTGCTGGAGGAGCTGGGTCCCTTTGCCTCCCTTGAGGGCTTCCGGGAGCTGCTAGACAAGGCACAGGTGGGCCAGGCCTACGTGGGGCGGCCCTGTCTGCACCCTGATGACCTCCACTGCCCACCTAGTGCCCCCAACCATCACAGCAGGCAGGCTCCCAATGTGGCTCACGAGCTGAGTGGGGGCTGCCATGGCTTCTCCCACAAATTCATGCACTGGCAGGAGGAATTGCTGCTGGGAGGCATGGCCAGAGACCCCCAAGGAGAGCTGCTGAGGGCAGAGGCCCTGCAGAGCACCTTCTTGCTGATGAGTCCCCGCCAGCTGTACGAGCATTTCCGGGGTGACTATCAGACACATGACATTGGCTGGAGTGAGGAGCAGGCCAGCACAGTGCTACAAGCCTGGCAGCGGCGCTTTGTGCAGCTGGCCCAGGAGGCCCTGCCTGAGAACGCTTCCCAGCAGATCCATGCCTTCTCCTCCACCACCCTGGATGACATCCTGCATGCGTTCTCTGAAGTCAGTGCTGCCCGTGTGGTGGGAGGCTATCTGCTCATGCTGGCCTATGCCTGTGTGACCATGCTGCGGTGGGACTGCGCCCAGTCCCAGGGTTCCGTGGGCCTTGCCGGGGTACTGCTGGTGGCCCTGGCGGTGGCCTCAGGCCTTGGGCTCTGTGCCCTGCTCGGCATCACCTTCAATGCTGCCACTACCCAGGTGCTGCCCTTCTTGGCTCTGGGAATCGGCGTGGATGACGTATTCCTGCTGGCGCATGCCTTCACAGAGGCTCTGCCTGGCACCCCTCTCCAGGAGCGCATGGGCGAGTGTCTGCAGCGCACGGGCACCAGTGTCGTACTCACATCCATCAACAACATGGCCGCCTTCCTCATGGCTGCCCTCGTTCCCATCCCTGCGCTGCGAGCCTTCTCCCTACAGGCGGCCATAGTGGTTGGCTGCACCTTTGTAGCCGTGATGCTTGTCTTCCCAGCCATCCTCAGCCTGGACCTACGGCGGCGCCACTGCCAGCGCCTTGATGTGCTCTGCTGCTTCTCCAGTCCCTGCTCTGCTCAGGTGATTCAGATCCTGCCCCAGGAGCTGGGGGACGGGACAGTACCAGTGGGCATTGCCCACCTCACTGCCACAGTTCAAGCCTTTACCCACTGTGAAGCCAGCAGCCAGCATGTGGTCACCATCCTGCCTCCCCAAGCCCACCTGGTGCCCCCACCTTCTGACCCACTGGGCTCTGAGCTCTTCAGCCCTGGAGGGTCCACACGGGACCTTCTAGGCCAGGAGGAGGAGACAAGGCAGAAGGCAGCCTGCAAGTCCCTGCCCTGTGCCCGCTGGAATCTTGCCCATTTCGCCCGCTATCAGTTTGCCCCGTTGCTGCTCCAGTCACATGCTAAGGCCATCGTGCTGGTGCTCTTTGGTGCTCTTCTGGGCCTGAGCCTCTACGGAGCCACCTTGGTGCAAGACGGCCTGGCCCTGACGGATGTGGTGCCTCGGGGCACCAAGGAGCATGCCTTCCTGAGCGCCCAGCTCAGGTACTTCTCCCTGTACGAGGTGGCCCTGGTGACCCAGGGTGGCTTTGACTACGCCCACTCCCAACGCGCCCTCTTTGATCTGCACCAGCGCTTCAGTTCCCTCAAGGCGGTGCTGCCCCCACCGGCCACCCAGGCACCCCGCACCTGGCTGCACTATTACCGCAACTGGCTACAGGGAATCCAGGCTGCCTTTGACCAGGACTGGGCTTCTGGGCGCATCACCCGCCACTCGTACCGCAATGGCTCTGAGGATGGGGCCCTGGCCTACAAGCTGCTCATCCAGACTGGAGACGCCCAGGAGCCTCTGGATTTCAGCCAGCTGACCACAAGGAAGCTGGTGGACAGAGAGGGACTGATTCCACCCGAGCTCTTCTACATGGGGCTGACCGTGTGGGTGAGCAGTGACCCCCTGGGTCTGGCAGCCTCACAGGCCAACTTCTACCCCCCACCTCCTGAATGGCTGCACGACAAATACGACACCACGGGGGAGAACCTTCGCATCCCGCCAGCTCAGCCCTTGGAGTTTGCCCAGTTCCCCTTCCTGCTGCGTGGCCTCCAGAAGACTGCAGACTTTGTGGAGGCCATCGAGGGGGCCCGGGCAGCATGCGCAGAGGCCGGCCAGGCTGGGGTGCACGCCTACCCCAGCGGCTCCCCCTTCCTCTTCTGGGAACAGTATCTGGGCCTGCGGCGCTGCTTCCTGCTGGCCGTCTGCATCCTGCTGGTGTGCACTTTCCTCGTCTGTGCTCTGCTGCTCCTCAACCCCTGGACGGCTGGCCTCATAGTGCTGGTCCTGGCGATGATGACAGTGGAACTCTTTGGTATCATGGGTTTCCTGGGCATCAAGCTGAGTGCCATCCCCGTGGTGATCCTTGTGGCCTCTGTAGGCATTGGCGTTGAGTTCACAGTCCACGTGGCTCTGGGCTTCCTGACCACCCAGGGCAGCCGGAACCTGCGGGCCGCCCATGCCCTTGAGCACACATTTGCCCCCGTGACCGATGGGGCCATCTCCACATTGCTGGGTCTGCTCATGCTTGCTGGTTCCCACTTTGACTTCATTGTAAGGTACTTCTTTGCGGCGCTGACAGTGCTCACGCTCCTGGGCCTCCTCCATGGACTCGTGCTGCTGCCTGTGCTGCTGTCCATCCTGGGCCCGCCGCCAGAGGTGATACAGATGTACAAGGAAAGCCCAGAGATCCTGAGTCCACCAGCTCCACAGGGAGGCGGGCTTAGGCCCGAGGAGATCTAG
Amino sequence
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQSQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLTTRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGGLRPEEI*