ENST00000599814.5 SYMPK

Information
Transcript ID
ENST00000599814.5
Genome
hg19
Position
chr19:46,322,213-46,358,968
Strand
-
CDS length
3,177
Amino acid length
1,059
Gene symbol
SYMPK
Gene type
protein-coding
Gene description
symplekin scaffold protein
Gene Entrez Gene ID
8189
Variants

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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 :
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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
21 46,322,213 46,324,743
20 46,326,014 46,326,104
19 46,326,630 46,326,730
18 46,327,025 46,327,133
17 46,328,429 46,328,589
16 46,329,484 46,329,631
15 46,330,768 46,330,881
14 46,331,095 46,331,176
13 46,332,228 46,332,463
12 46,333,312 46,333,462
11 46,334,642 46,334,846
10 46,338,336 46,338,486
9 46,341,719 46,341,873
8 46,345,508 46,345,747
7 46,347,288 46,347,458
6 46,351,010 46,351,259
5 46,352,008 46,352,134
4 46,355,570 46,355,643
3 46,355,740 46,355,793
2 46,357,433 46,357,498
1 46,357,649 46,358,968
CDS
Exon number Type Start Stop
21 CDS 46,324,358 46,324,743
20 CDS 46,326,014 46,326,104
19 CDS 46,326,630 46,326,730
18 CDS 46,327,025 46,327,133
17 CDS 46,328,429 46,328,589
16 CDS 46,329,484 46,329,631
15 CDS 46,330,768 46,330,881
14 CDS 46,331,095 46,331,176
13 CDS 46,332,228 46,332,463
12 CDS 46,333,312 46,333,462
11 CDS 46,334,642 46,334,846
10 CDS 46,338,336 46,338,486
9 CDS 46,341,719 46,341,873
8 CDS 46,345,508 46,345,747
7 CDS 46,347,288 46,347,458
6 CDS 46,351,010 46,351,259
5 CDS 46,352,008 46,352,134
4 CDS 46,355,570 46,355,643
3 CDS 46,355,740 46,355,793
2 CDS 46,357,433 46,357,498
1 CDS 46,357,649 46,357,753
Other genome
Genome Chromosome Start End Links
hg38 chr19 45,818,955 45,855,710 Link
CDS sequence
ATGGCGAGCGGCAGTGGAGACAGCGTCACCCGTCGGAGCGTGGCATCACAGTTTTTCACTCAAGAGGAGGGGCCGGGCATCGATGGCATGACCACCTCAGAGAGGGTGGTGGATCTTCTGAACCAGGCGGCGCTGATCACCAATGACTCAAAGATCACAGTGCTCAAACAGGTCCAGGAGCTGATCATCAACAAAGACCCCACACTACTGGACAACTTCCTGGATGAGATCATCGCATTCCAAGCAGACAAGTCAATCGAAGTGCGAAAATTTGTCATCGGCTTCATCGAGGAGGCATGCAAGCGAGACATTGAGTTGCTGCTGAAACTCATTGCAAACCTCAACATGCTCTTGAGGGACGAGAATGTGAACGTGGTGAAGAAGGCTATCCTCACCATGACCCAGCTCTACAAGGTGGCCCTGCAGTGGATGGTAAAGTCACGGGTCATTAGCGAGCTACAGGAGGCCTGCTGGGACATGGTATCTGCCATGGCGGGGGACATCATCCTGCTATTGGACTCTGACAATGACGGCATCCGCACCCACGCCATCAAGTTTGTGGAGGGCCTCATTGTCACCCTGTCACCCCGCATGGCTGACTCAGAGATACCCCGACGCCAGGAGCATGATATCAGCCTGGACCGCATCCCTCGTGACCACCCCTACATCCAGTACAACGTGCTATGGGAAGAGGGCAAGGCAGCCTTGGAGCAGCTGCTTAAGTTCATGGTGCACCCTGCCATCTCCTCCATCAACCTGACCACAGCGCTGGGCTCCCTTGCCAATATCGCCCGCCAGAGACCCATGTTCATGTCTGAGGTGATCCAGGCCTATGAAACTCTGCATGCCAACCTGCCCCCGACGCTGGCCAAATCGCAGGTGAGCAGTGTGCGTAAGAATCTGAAGCTGCACCTGTTGAGTGTGCTGAAGCACCCGGCTTCCTTGGAGTTCCAGGCCCAGATCACCACCCTGCTGGTGGACCTGGGCACACCTCAGGCCGAGATCGCCCGCAACATGCCGAGCAGCAAGGACACCCGCAAGCGGCCCCGCGATGACTCGGACTCCACACTCAAGAAGATGAAGCTGGAGCCCAACCTGGGGGAGGACGATGAGGACAAAGACTTGGAGCCAGGCCCGTCGGGGACCTCGAAGGCCTCAGCGCAGATCTCCGGCCAGTCAGACACGGACATCACAGCTGAGTTCCTGCAGCCTCTGCTGACGCCTGATAATGTGGCTAATCTGGTCCTCATCAGCATGGTGTACCTACCCGAGGCCATGCCAGCCTCCTTCCAGGCCATCTACACCCCCGTGGAGTCAGCAGGCACGGAAGCCCAGATCAAGCACCTGGCTCGGCTCATGGCCACACAGATGACAGCTGCCGGACTGGGACCAGGTGTAGAGCAGACCAAACAGTGCAAGGAGGAGCCCAAGGAGGAGAAGGTGGTGAAGACAGAGAGCGTCCTGATCAAGCGGCGCCTGTCAGCCCAGGGCCAAGCCATCTCGGTGGTGGGTTCCCTGAGCTCCATGTCCCCCCTGGAGGAAGAGGCACCGCAGGCCAAGAGGAGGCCAGAGCCCATTATCCCTGTCACTCAGCCCCGGCTGGCAGGCGCTGGTGGGCGCAAGAAAATTTTCCGTCTCAGCGACGTGCTGAAGCCCCTTACCGATGCCCAGGTGGAAGCCATGAAGCTGGGCGCTGTGAAGCGGATCCTGCGGGCTGAGAAGGCTGTGGCCTGCAGCGGGGCAGCCCAGGTCCGCATAAAGATCCTGGCCAGCCTGGTGACACAGTTCAACTCGGGCCTGAAGGCGGAGGTCCTGTCCTTCATCCTGGAGGATGTGCGGGCCCGCCTGGACCTGGCCTTCGCCTGGCTCTACCAGGAGTACAACGCCTACCTGGCCGCAGGTGCCTCGGGCTCCCTGGACAAGTATGAGGACTGCCTCATCCGCCTGTTGTCTGGCCTGCAGGAGAAACCAGACCAGAAGGATGGGATCTTCACCAAGGTTGTGCTGGAGGCGCCACTCATCACAGAGAGTGCCCTGGAGGTGGTCCGCAAGTACTGCGAGGATGAGAGTCGCACCTATCTGGGCATGTCCACACTTCGAGACCTGATCTTCAAGCGCCCGTCCCGCCAGTTCCAGTACCTGCATGTCCTCCTCGACCTCAGCTCCCATGAGAAGGACAAGGTGCGCTCCCAGGCCCTGCTGTTCATCAAACGCATGTATGAGAAGGAGCAGCTGCGGGAGTATGTGGAGAAATTTGCCCTCAACTACCTGCAGCTCCTGGTGCACCCCAACCCACCGTCTGTGCTGTTTGGAGCTGACAAGGACACAGAGGTGGCAGCACCCTGGACGGAGGAGACAGTGAAGCAGTGTCTGTACCTCTACCTGGCCCTCCTGCCTCAGAACCACAAGCTGATCCACGAACTGGCGGCCGTGTACACTGAAGCCATCGCCGACATCAAGCGGACGGTGCTGAGGGTCATTGAGCAGCCGATCCGAGGAATGGGCATGAACTCCCCGGAGCTGCTCCTGCTGGTGGAAAATTGTCCCAAGGGAGCAGAGACACTGGTCACGAGATGTCTGCACAGCCTCACAGACAAAGTCCCACCCTCCCCAGAGCTGGTGAAGCGGGTCCGGGATCTCTACCACAAGCGACTGCCAGACGTCCGCTTCCTCATCCCGGTGCTCAATGGGCTGGAGAAGAAAGAGGTGATCCAGGCCCTGCCTAAACTCATCAAACTCAACCCCATCGTGGTGAAGGAAGTCTTCAACCGCCTGCTGGGCACCCAGCATGGTGAGGGAAACTCAGCCTTGTCCCCGCTGAACCCTGGAGAGCTCCTGATCGCATTACACAACATTGACTCCGTGAAGTGCGACATGAAATCCATCATCAAAGGTGAGGCGCTTCCCCCCCACTCCAGTGGCCTGGCCCCTGCGACGCCAGGGCAGGACCTCAGTCACCCACATGCCCCCACTGGAATCTGCCAAGTCAAAGACTGTCACTCACAGCCCCACCTCAGAGCTCTGGAGAGCCACCTCCCTCCCTCCCTCCTTTTCTTGCCTCCTCTTCCCTCCCTCCCTCCCTCCCTCCTCCTTCCTTCCTCCCAGGTTTTACCCTTTACAACCCACCTTTTTCTGCCTCTGATGTACCTGCTGTGCCCTGGCACAGAGTGGGCCTAA
Amino sequence
MASGSGDSVTRRSVASQFFTQEEGPGIDGMTTSERVVDLLNQAALITNDSKITVLKQVQELIINKDPTLLDNFLDEIIAFQADKSIEVRKFVIGFIEEACKRDIELLLKLIANLNMLLRDENVNVVKKAILTMTQLYKVALQWMVKSRVISELQEACWDMVSAMAGDIILLLDSDNDGIRTHAIKFVEGLIVTLSPRMADSEIPRRQEHDISLDRIPRDHPYIQYNVLWEEGKAALEQLLKFMVHPAISSINLTTALGSLANIARQRPMFMSEVIQAYETLHANLPPTLAKSQVSSVRKNLKLHLLSVLKHPASLEFQAQITTLLVDLGTPQAEIARNMPSSKDTRKRPRDDSDSTLKKMKLEPNLGEDDEDKDLEPGPSGTSKASAQISGQSDTDITAEFLQPLLTPDNVANLVLISMVYLPEAMPASFQAIYTPVESAGTEAQIKHLARLMATQMTAAGLGPGVEQTKQCKEEPKEEKVVKTESVLIKRRLSAQGQAISVVGSLSSMSPLEEEAPQAKRRPEPIIPVTQPRLAGAGGRKKIFRLSDVLKPLTDAQVEAMKLGAVKRILRAEKAVACSGAAQVRIKILASLVTQFNSGLKAEVLSFILEDVRARLDLAFAWLYQEYNAYLAAGASGSLDKYEDCLIRLLSGLQEKPDQKDGIFTKVVLEAPLITESALEVVRKYCEDESRTYLGMSTLRDLIFKRPSRQFQYLHVLLDLSSHEKDKVRSQALLFIKRMYEKEQLREYVEKFALNYLQLLVHPNPPSVLFGADKDTEVAAPWTEETVKQCLYLYLALLPQNHKLIHELAAVYTEAIADIKRTVLRVIEQPIRGMGMNSPELLLLVENCPKGAETLVTRCLHSLTDKVPPSPELVKRVRDLYHKRLPDVRFLIPVLNGLEKKEVIQALPKLIKLNPIVVKEVFNRLLGTQHGEGNSALSPLNPGELLIALHNIDSVKCDMKSIIKGEALPPHSSGLAPATPGQDLSHPHAPTGICQVKDCHSQPHLRALESHLPPSLLFLPPLPSLPPSLLLPSSQVLPFTTHLFLPLMYLLCPGTEWA*