ENST00000372192.4 PTCH2

Information
Transcript ID
ENST00000372192.4
Genome
hg19
Position
chr1:45,287,610-45,308,925
Strand
-
CDS length
3,612
Amino acid length
1,204
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
22 45,287,610 45,288,341
21 45,288,741 45,288,840
20 45,288,915 45,289,057
19 45,291,922 45,292,059
18 45,292,160 45,292,440
17 45,292,574 45,292,754
16 45,292,839 45,292,981
15 45,293,074 45,293,386
14 45,293,515 45,293,863
13 45,293,968 45,294,086
12 45,294,178 45,294,303
11 45,294,654 45,294,746
10 45,294,829 45,294,984
9 45,295,074 45,295,205
8 45,295,286 45,295,433
7 45,295,581 45,295,702
6 45,296,520 45,296,715
5 45,297,378 45,297,469
4 45,297,647 45,297,716
3 45,297,824 45,298,013
2 45,307,519 45,307,711
1 45,308,533 45,308,925
CDS
Exon number Type Start Stop
22 CDS 45,288,087 45,288,341
21 CDS 45,288,741 45,288,840
20 CDS 45,288,915 45,289,057
19 CDS 45,291,922 45,292,059
18 CDS 45,292,160 45,292,440
17 CDS 45,292,574 45,292,754
16 CDS 45,292,839 45,292,981
15 CDS 45,293,074 45,293,386
14 CDS 45,293,515 45,293,863
13 CDS 45,293,968 45,294,086
12 CDS 45,294,178 45,294,303
11 CDS 45,294,654 45,294,746
10 CDS 45,294,829 45,294,984
9 CDS 45,295,074 45,295,205
8 CDS 45,295,286 45,295,433
7 CDS 45,295,581 45,295,702
6 CDS 45,296,520 45,296,715
5 CDS 45,297,378 45,297,469
4 CDS 45,297,647 45,297,716
3 CDS 45,297,824 45,298,013
2 CDS 45,307,519 45,307,711
1 CDS 45,308,533 45,308,604
Other genome
Genome Chromosome Start End Links
hg38 chr1 44,821,938 44,843,253 Link
CDS sequence
ATGACTCGATCGCCGCCCCTCAGAGAGCTGCCCCCGAGTTACACACCCCCAGCTCGAACCGCAGCACCCCAGATCCTAGCTGGGAGCCTGAAGGCTCCACTCTGGCTTCGTGCTTACTTCCAGGGCCTGCTCTTCTCTCTGGGATGCGGGATCCAGAGACATTGTGGCAAAGTGCTCTTTCTGGGACTGTTGGCCTTTGGGGCCCTGGCATTAGGTCTCCGCATGGCCATTATTGAGACAAACTTGGAACAGCTCTGGGTAGAAGTGGGCAGCCGGGTGAGCCAGGAGCTGCATTACACCAAGGAGAAGCTGGGGGAGGAGGCTGCATACACCTCTCAGATGCTGATACAGACCGCACGCCAGGAGGGAGAGAACATCCTCACACCCGAAGCACTTGGCCTCCACCTCCAGGCAGCCCTCACTGCCAGTAAAGTCCAAGTATCACTCTATGGGAAGTCCTGGGATTTGAACAAAATCTGCTACAAGTCAGGAGTTCCCCTTATTGAAAATGGAATGATTGAGCGGATGATTGAGAAGCTGTTTCCGTGCGTGATCCTCACCCCCCTCGACTGCTTCTGGGAGGGAGCCAAACTCCAAGGGGGCTCCGCCTACCTGCCCGGCCGCCCGGATATCCAGTGGACCAACCTGGATCCAGAGCAGCTGCTGGAGGAGCTGGGTCCCTTTGCCTCCCTTGAGGGCTTCCGGGAGCTGCTAGACAAGGCACAGGTGGGCCAGGCCTACGTGGGGCGGCCCTGTCTGCACCCTGATGACCTCCACTGCCCACCTAGTGCCCCCAACCATCACAGCAGGCAGGCTCCCAATGTGGCTCACGAGCTGAGTGGGGGCTGCCATGGCTTCTCCCACAAATTCATGCACTGGCAGGAGGAATTGCTGCTGGGAGGCATGGCCAGAGACCCCCAAGGAGAGCTGCTGAGGGCAGAGGCCCTGCAGAGCACCTTCTTGCTGATGAGTCCCCGCCAGCTGTACGAGCATTTCCGGGGTGACTATCAGACACATGACATTGGCTGGAGTGAGGAGCAGGCCAGCACAGTGCTACAAGCCTGGCAGCGGCGCTTTGTGCAGCTGGCCCAGGAGGCCCTGCCTGAGAACGCTTCCCAGCAGATCCATGCCTTCTCCTCCACCACCCTGGATGACATCCTGCATGCGTTCTCTGAAGTCAGTGCTGCCCGTGTGGTGGGAGGCTATCTGCTCATGCTGGCCTATGCCTGTGTGACCATGCTGCGGTGGGACTGCGCCCAGTCCCAGGGTTCCGTGGGCCTTGCCGGGGTACTGCTGGTGGCCCTGGCGGTGGCCTCAGGCCTTGGGCTCTGTGCCCTGCTCGGCATCACCTTCAATGCTGCCACTACCCAGGTGCTGCCCTTCTTGGCTCTGGGAATCGGCGTGGATGACGTATTCCTGCTGGCGCATGCCTTCACAGAGGCTCTGCCTGGCACCCCTCTCCAGGAGCGCATGGGCGAGTGTCTGCAGCGCACGGGCACCAGTGTCGTACTCACATCCATCAACAACATGGCCGCCTTCCTCATGGCTGCCCTCGTTCCCATCCCTGCGCTGCGAGCCTTCTCCCTACAGGCGGCCATAGTGGTTGGCTGCACCTTTGTAGCCGTGATGCTTGTCTTCCCAGCCATCCTCAGCCTGGACCTACGGCGGCGCCACTGCCAGCGCCTTGATGTGCTCTGCTGCTTCTCCAGTCCCTGCTCTGCTCAGGTGATTCAGATCCTGCCCCAGGAGCTGGGGGACGGGACAGTACCAGTGGGCATTGCCCACCTCACTGCCACAGTTCAAGCCTTTACCCACTGTGAAGCCAGCAGCCAGCATGTGGTCACCATCCTGCCTCCCCAAGCCCACCTGGTGCCCCCACCTTCTGACCCACTGGGCTCTGAGCTCTTCAGCCCTGGAGGGTCCACACGGGACCTTCTAGGCCAGGAGGAGGAGACAAGGCAGAAGGCAGCCTGCAAGTCCCTGCCCTGTGCCCGCTGGAATCTTGCCCATTTCGCCCGCTATCAGTTTGCCCCGTTGCTGCTCCAGTCACATGCTAAGGCCATCGTGCTGGTGCTCTTTGGTGCTCTTCTGGGCCTGAGCCTCTACGGAGCCACCTTGGTGCAAGACGGCCTGGCCCTGACGGATGTGGTGCCTCGGGGCACCAAGGAGCATGCCTTCCTGAGCGCCCAGCTCAGGTACTTCTCCCTGTACGAGGTGGCCCTGGTGACCCAGGGTGGCTTTGACTACGCCCACTCCCAACGCGCCCTCTTTGATCTGCACCAGCGCTTCAGTTCCCTCAAGGCGGTGCTGCCCCCACCGGCCACCCAGGCACCCCGCACCTGGCTGCACTATTACCGCAACTGGCTACAGGGAATCCAGGCTGCCTTTGACCAGGACTGGGCTTCTGGGCGCATCACCCGCCACTCGTACCGCAATGGCTCTGAGGATGGGGCCCTGGCCTACAAGCTGCTCATCCAGACTGGAGACGCCCAGGAGCCTCTGGATTTCAGCCAGCTGACCACAAGGAAGCTGGTGGACAGAGAGGGACTGATTCCACCCGAGCTCTTCTACATGGGGCTGACCGTGTGGGTGAGCAGTGACCCCCTGGGTCTGGCAGCCTCACAGGCCAACTTCTACCCCCCACCTCCTGAATGGCTGCACGACAAATACGACACCACGGGGGAGAACCTTCGCATCCCGCCAGCTCAGCCCTTGGAGTTTGCCCAGTTCCCCTTCCTGCTGCGTGGCCTCCAGAAGACTGCAGACTTTGTGGAGGCCATCGAGGGGGCCCGGGCAGCATGCGCAGAGGCCGGCCAGGCTGGGGTGCACGCCTACCCCAGCGGCTCCCCCTTCCTCTTCTGGGAACAGTATCTGGGCCTGCGGCGCTGCTTCCTGCTGGCCGTCTGCATCCTGCTGGTGTGCACTTTCCTCGTCTGTGCTCTGCTGCTCCTCAACCCCTGGACGGCTGGCCTCATAGTGCTGGTCCTGGCGATGATGACAGTGGAACTCTTTGGTATCATGGGTTTCCTGGGCATCAAGCTGAGTGCCATCCCCGTGGTGATCCTTGTGGCCTCTGTAGGCATTGGCGTTGAGTTCACAGTCCACGTGGCTCTGGGCTTCCTGACCACCCAGGGCAGCCGGAACCTGCGGGCCGCCCATGCCCTTGAGCACACATTTGCCCCCGTGACCGATGGGGCCATCTCCACATTGCTGGGTCTGCTCATGCTTGCTGGTTCCCACTTTGACTTCATTGTAAGGTACTTCTTTGCGGCGCTGACAGTGCTCACGCTCCTGGGCCTCCTCCATGGACTCGTGCTGCTGCCTGTGCTGCTGTCCATCCTGGGCCCGCCGCCAGAGGTGATACAGATGTACAAGGAAAGCCCAGAGATCCTGAGTCCACCAGCTCCACAGGGAGGCGGGCTTAGGTGGGGGGCATCCTCCTCCCTGCCCCAGAGCTTTGCCAGAGTGACTACCTCCATGACCGTGGCCATCCACCCACCCCCCCTGCCTGGTGCCTACATCCATCCAGCCCCTGATGAGCCCCCTTGGTCCCCTGCTGCCACTAGCTCTGGCAACCTCAGTTCCAGGGGACCAGGTCCAGCCACTGGGTGA
Amino sequence
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQSQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLTTRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGGLRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG*