ENST00000599814.5 SYMPK

Information
Transcript ID
ENST00000599814.5
Genome
hg38
Position
chr19:45,818,955-45,855,710
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 45,818,955 45,821,485
20 45,822,756 45,822,846
19 45,823,372 45,823,472
18 45,823,767 45,823,875
17 45,825,171 45,825,331
16 45,826,226 45,826,373
15 45,827,510 45,827,623
14 45,827,837 45,827,918
13 45,828,970 45,829,205
12 45,830,054 45,830,204
11 45,831,384 45,831,588
10 45,835,078 45,835,228
9 45,838,461 45,838,615
8 45,842,250 45,842,489
7 45,844,030 45,844,200
6 45,847,752 45,848,001
5 45,848,750 45,848,876
4 45,852,312 45,852,385
3 45,852,482 45,852,535
2 45,854,175 45,854,240
1 45,854,391 45,855,710
CDS
Exon number Type Start Stop
21 CDS 45,821,100 45,821,485
20 CDS 45,822,756 45,822,846
19 CDS 45,823,372 45,823,472
18 CDS 45,823,767 45,823,875
17 CDS 45,825,171 45,825,331
16 CDS 45,826,226 45,826,373
15 CDS 45,827,510 45,827,623
14 CDS 45,827,837 45,827,918
13 CDS 45,828,970 45,829,205
12 CDS 45,830,054 45,830,204
11 CDS 45,831,384 45,831,588
10 CDS 45,835,078 45,835,228
9 CDS 45,838,461 45,838,615
8 CDS 45,842,250 45,842,489
7 CDS 45,844,030 45,844,200
6 CDS 45,847,752 45,848,001
5 CDS 45,848,750 45,848,876
4 CDS 45,852,312 45,852,385
3 CDS 45,852,482 45,852,535
2 CDS 45,854,175 45,854,240
1 CDS 45,854,391 45,854,495
Other genome
Genome Chromosome Start End Links
hg19 chr19 46,322,213 46,358,968 Link
CDS sequence
ATGGCGAGCGGCAGTGGAGACAGCGTCACCCGTCGGAGCGTGGCATCACAGTTTTTCACTCAAGAGGAGGGGCCGGGCATCGATGGCATGACCACCTCAGAGAGGGTGGTGGATCTTCTGAACCAGGCGGCGCTGATCACCAATGACTCAAAGATCACAGTGCTCAAACAGGTCCAGGAGCTGATCATCAACAAAGACCCCACACTACTGGACAACTTCCTGGATGAGATCATCGCATTCCAAGCAGACAAGTCAATCGAAGTGCGAAAATTTGTCATCGGCTTCATCGAGGAGGCATGCAAGCGAGACATTGAGTTGCTGCTGAAACTCATTGCAAACCTCAACATGCTCTTGAGGGACGAGAATGTGAACGTGGTGAAGAAGGCTATCCTCACCATGACCCAGCTCTACAAGGTGGCCCTGCAGTGGATGGTAAAGTCACGGGTCATTAGCGAGCTACAGGAGGCCTGCTGGGACATGGTATCTGCCATGGCGGGGGACATCATCCTGCTATTGGACTCTGACAATGACGGCATCCGCACCCACGCCATCAAGTTTGTGGAGGGCCTCATTGTCACCCTGTCACCCCGCATGGCTGACTCAGAGATACCCCGACGCCAGGAGCATGATATCAGCCTGGACCGCATCCCTCGTGACCACCCCTACATCCAGTACAACGTGCTATGGGAAGAGGGCAAGGCAGCCTTGGAGCAGCTGCTTAAGTTCATGGTGCACCCTGCCATCTCCTCCATCAACCTGACCACAGCGCTGGGCTCCCTTGCCAATATCGCCCGCCAGAGACCCATGTTCATGTCTGAGGTGATCCAGGCCTATGAAACTCTGCATGCCAACCTGCCCCCGACGCTGGCCAAATCGCAGGTGAGCAGTGTGCGTAAGAATCTGAAGCTGCACCTGTTGAGTGTGCTGAAGCACCCGGCTTCCTTGGAGTTCCAGGCCCAGATCACCACCCTGCTGGTGGACCTGGGCACACCTCAGGCCGAGATCGCCCGCAACATGCCGAGCAGCAAGGACACCCGCAAGCGGCCCCGCGATGACTCGGACTCCACACTCAAGAAGATGAAGCTGGAGCCCAACCTGGGGGAGGACGATGAGGACAAAGACTTGGAGCCAGGCCCGTCGGGGACCTCGAAGGCCTCAGCGCAGATCTCCGGCCAGTCAGACACGGACATCACAGCTGAGTTCCTGCAGCCTCTGCTGACGCCTGATAATGTGGCTAATCTGGTCCTCATCAGCATGGTGTACCTACCCGAGGCCATGCCAGCCTCCTTCCAGGCCATCTACACCCCCGTGGAGTCAGCAGGCACGGAAGCCCAGATCAAGCACCTGGCTCGGCTCATGGCCACACAGATGACAGCTGCCGGACTGGGACCAGGTGTAGAGCAGACCAAACAGTGCAAGGAGGAGCCCAAGGAGGAGAAGGTGGTGAAGACAGAGAGCGTCCTGATCAAGCGGCGCCTGTCAGCCCAGGGCCAAGCCATCTCGGTGGTGGGTTCCCTGAGCTCCATGTCCCCCCTGGAGGAAGAGGCACCGCAGGCCAAGAGGAGGCCAGAGCCCATTATCCCTGTCACTCAGCCCCGGCTGGCAGGCGCTGGTGGGCGCAAGAAAATTTTCCGTCTCAGCGACGTGCTGAAGCCCCTTACCGATGCCCAGGTGGAAGCCATGAAGCTGGGCGCTGTGAAGCGGATCCTGCGGGCTGAGAAGGCTGTGGCCTGCAGCGGGGCAGCCCAGGTCCGCATAAAGATCCTGGCCAGCCTGGTGACACAGTTCAACTCGGGCCTGAAGGCGGAGGTCCTGTCCTTCATCCTGGAGGATGTGCGGGCCCGCCTGGACCTGGCCTTCGCCTGGCTCTACCAGGAGTACAACGCCTACCTGGCCGCAGGTGCCTCGGGCTCCCTGGACAAGTATGAGGACTGCCTCATCCGCCTGTTGTCTGGCCTGCAGGAGAAACCAGACCAGAAGGATGGGATCTTCACCAAGGTTGTGCTGGAGGCGCCACTCATCACAGAGAGTGCCCTGGAGGTGGTCCGCAAGTACTGCGAGGATGAGAGTCGCACCTATCTGGGCATGTCCACACTTCGAGACCTGATCTTCAAGCGCCCGTCCCGCCAGTTCCAGTACCTGCATGTCCTCCTCGACCTCAGCTCCCATGAGAAGGACAAGGTGCGCTCCCAGGCCCTGCTGTTCATCAAACGCATGTATGAGAAGGAGCAGCTGCGGGAGTATGTGGAGAAATTTGCCCTCAACTACCTGCAGCTCCTGGTGCACCCCAACCCACCGTCTGTGCTGTTTGGAGCTGACAAGGACACAGAGGTGGCAGCACCCTGGACGGAGGAGACAGTGAAGCAGTGTCTGTACCTCTACCTGGCCCTCCTGCCTCAGAACCACAAGCTGATCCACGAACTGGCGGCCGTGTACACTGAAGCCATCGCCGACATCAAGCGGACGGTGCTGAGGGTCATTGAGCAGCCGATCCGAGGAATGGGCATGAACTCCCCGGAGCTGCTCCTGCTGGTGGAAAATTGTCCCAAGGGAGCAGAGACACTGGTCACGAGATGTCTGCACAGCCTCACAGACAAAGTCCCACCCTCCCCAGAGCTGGTGAAGCGGGTCCGGGATCTCTACCACAAGCGACTGCCAGACGTCCGCTTCCTCATCCCGGTGCTCAATGGGCTGGAGAAGAAAGAGGTGATCCAGGCCCTGCCTAAACTCATCAAACTCAACCCCATCGTGGTGAAGGAAGTCTTCAACCGCCTGCTGGGCACCCAGCATGGTGAGGGAAACTCAGCCTTGTCCCCGCTGAACCCTGGAGAGCTCCTGATCGCATTACACAACATTGACTCCGTGAAGTGCGACATGAAATCCATCATCAAAGGTGAGGCGCTTCCCCCCCACTCCAGTGGCCTGGCCCCTGCGACGCCAGGGCAGGACCTCAGTCACCCACATGCCCCCACTGGAATCTGCCAAGTCAAAGACTGTCACTCACAGCCCCACCTCAGAGCTCTGGAGAGCCACCTCCCTCCCTCCCTCCTTTTCTTGCCTCCTCTTCCCTCCCTCCCTCCCTCCCTCCTCCTTCCTTCCTCCCAGGTTTTACCCTTTACAACCCACCTTTTTCTGCCTCTGATGTACCTGCTGTGCCCTGGCACAGAGTGGGCCTAA
Amino sequence
MASGSGDSVTRRSVASQFFTQEEGPGIDGMTTSERVVDLLNQAALITNDSKITVLKQVQELIINKDPTLLDNFLDEIIAFQADKSIEVRKFVIGFIEEACKRDIELLLKLIANLNMLLRDENVNVVKKAILTMTQLYKVALQWMVKSRVISELQEACWDMVSAMAGDIILLLDSDNDGIRTHAIKFVEGLIVTLSPRMADSEIPRRQEHDISLDRIPRDHPYIQYNVLWEEGKAALEQLLKFMVHPAISSINLTTALGSLANIARQRPMFMSEVIQAYETLHANLPPTLAKSQVSSVRKNLKLHLLSVLKHPASLEFQAQITTLLVDLGTPQAEIARNMPSSKDTRKRPRDDSDSTLKKMKLEPNLGEDDEDKDLEPGPSGTSKASAQISGQSDTDITAEFLQPLLTPDNVANLVLISMVYLPEAMPASFQAIYTPVESAGTEAQIKHLARLMATQMTAAGLGPGVEQTKQCKEEPKEEKVVKTESVLIKRRLSAQGQAISVVGSLSSMSPLEEEAPQAKRRPEPIIPVTQPRLAGAGGRKKIFRLSDVLKPLTDAQVEAMKLGAVKRILRAEKAVACSGAAQVRIKILASLVTQFNSGLKAEVLSFILEDVRARLDLAFAWLYQEYNAYLAAGASGSLDKYEDCLIRLLSGLQEKPDQKDGIFTKVVLEAPLITESALEVVRKYCEDESRTYLGMSTLRDLIFKRPSRQFQYLHVLLDLSSHEKDKVRSQALLFIKRMYEKEQLREYVEKFALNYLQLLVHPNPPSVLFGADKDTEVAAPWTEETVKQCLYLYLALLPQNHKLIHELAAVYTEAIADIKRTVLRVIEQPIRGMGMNSPELLLLVENCPKGAETLVTRCLHSLTDKVPPSPELVKRVRDLYHKRLPDVRFLIPVLNGLEKKEVIQALPKLIKLNPIVVKEVFNRLLGTQHGEGNSALSPLNPGELLIALHNIDSVKCDMKSIIKGEALPPHSSGLAPATPGQDLSHPHAPTGICQVKDCHSQPHLRALESHLPPSLLFLPPLPSLPPSLLLPSSQVLPFTTHLFLPLMYLLCPGTEWA*