ENST00000293441.6 SHANK1

Information
Transcript ID
ENST00000293441.6
Genome
hg38
Position
chr19:50,659,255-50,719,802
Strand
-
CDS length
6,486
Amino acid length
2,162
Gene symbol
SHANK1
Gene type
protein-coding
Gene description
SH3 and multiple ankyrin repeat domains 1
Gene Entrez Gene ID
50944
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
24 50,659,255 50,662,682
23 50,666,192 50,669,285
22 50,672,018 50,672,114
21 50,686,237 50,686,355
20 50,686,744 50,686,812
19 50,687,582 50,687,662
18 50,687,923 50,688,058
17 50,688,844 50,688,968
16 50,689,197 50,689,279
15 50,697,096 50,697,122
14 50,697,589 50,697,664
13 50,697,843 50,697,956
12 50,702,467 50,702,660
11 50,703,500 50,703,830
10 50,704,120 50,704,186
9 50,704,437 50,704,514
8 50,711,371 50,711,487
7 50,711,947 50,712,114
6 50,713,798 50,713,949
5 50,714,182 50,714,290
4 50,715,659 50,715,730
3 50,716,275 50,716,478
2 50,716,665 50,716,962
1 50,719,406 50,719,802
CDS
Exon number Type Start Stop
24 CDS 50,661,965 50,662,682
23 CDS 50,666,192 50,669,285
22 CDS 50,672,018 50,672,114
21 CDS 50,686,237 50,686,355
20 CDS 50,686,744 50,686,812
19 CDS 50,687,582 50,687,662
18 CDS 50,687,923 50,688,058
17 CDS 50,688,844 50,688,968
16 CDS 50,689,197 50,689,279
15 CDS 50,697,096 50,697,122
14 CDS 50,697,589 50,697,664
13 CDS 50,697,843 50,697,956
12 CDS 50,702,467 50,702,660
11 CDS 50,703,500 50,703,830
10 CDS 50,704,120 50,704,186
9 CDS 50,704,437 50,704,514
8 CDS 50,711,371 50,711,487
7 CDS 50,711,947 50,712,114
6 CDS 50,713,798 50,713,949
5 CDS 50,714,182 50,714,290
4 CDS 50,715,659 50,715,730
3 CDS 50,716,275 50,716,478
2 CDS 50,716,665 50,716,919
Other genome
Genome Chromosome Start End Links
hg19 chr19 51,162,512 51,223,059 Link
CDS sequence
ATGACCCACAGCCCCGCGACAAGCGAGGACGAGGAACGCCACAGTGCCAGCGAGTGTCCCGAGGGGGGCTCAGAGTCCGACAGCTCCCCAGACGGGCCAGGTCGAGGCCCCCGGGGGACCCGGGGCCAGGGCAGTGGGGCACCTGGTAGCCTGGCCTCTGTTAGAGGCCTCCAGGGCCGCTCAATGTCCGTCCCAGACGACGCCCACTTCAGCATGATGGTCTTCAGGATTGGCATCCCGGACCTGCACCAGACAAAATGCCTTCGCTTCAACCCCGATGCCACCATCTGGACGGCCAAGCAGCAGGTGCTCTGTGCCCTGAGCGAGAGCCTGCAGGATGTGCTCAACTATGGCCTGTTCCAACCGGCCACCTCCGGCCGCGATGCCAACTTCCTGGAGGAGGAGAGGCTGCTGCGGGAGTACCCCCAGTCCTTTGAGAAGGGGGTCCCCTACCTGGAGTTCCGATACAAGACCCGAGTTTACAAACAGACCAACCTGGATGAGAAGCAGCTGGCCAAGTTGCACACGAAGACGGGGTTGAAGAAGTTCCTGGAGTATGTGCAGCTCGGGACATCTGACAAGGTGGCGCGGCTGCTGGACAAGGGGCTGGACCCCAATTACCATGACTCGGATTCGGGAGAGACCCCCTTGACACTGGCGGCCCAGACCGAAGGCTCTGTAGAGGTGATTCGAACCCTGTGCCTGGGCGGGGCCCACATTGACTTCCGGGCCCGGGATGGCATGACCGCACTGCATAAGGCCGCATGCGCCCGACACTGCCTGGCACTCACGGCGCTCCTGGACCTTGGGGGTTCCCCCAACTACAAGGACCGTCGGGGGCTGACCCCTCTGTTCCACACGGCCATGGTGGGTGGTGACCCCCGATGCTGCGAGCTGCTCCTGTTCAACAGGGCCCAGCTGGGCATAGCTGATGAGAACGGCTGGCAGGAAATCCACCAGGCCTGCCAGCGGGGTCACTCTCAGCACCTGGAGCATCTGCTTTTCTACGGGGCTGAGCCTGGAGCCCAGAACGCCTCGGGGAACACGGCTCTGCACATCTGCGCCCTCTACAACAAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTGGCAGTGATTGCTGGGAATTTTGAGCTGGGGGAGCTGATCCGAAACCACCGAGAACAGGATGTGGTGCCCTTCCAGGAGTCCCCCAAGTACGCGGCCCGGCGACGGGGGCCCCCAGGCACAGGGCTGACGGTGCCCCCGGCGCTGCTGCGGGCCAACAGTGACACCAGCATGGCGCTGCCCGACTGGATGGTGTTCTCCGCCCCGGGGGCCGCGTCCTCTGGGGCCCCTGGCCCTACCTCAGGGTCCCAGGGCCAGTCGCAGCCCTCGGCCCCCACCACCAAGCTCAGCAGCGGGACCCTCCGAAGTGCCAGCAGCCCCCGGGGTGCCAGGGCCCGCTCTCCATCCCGAGGGAGGCACCCTGAGGACGCCAAGAGGCAGCCCCGAGGCCGGCCCAGCTCCAGCGGGACACCCCGGGAAGGGCCAGCCGGGGGCACGGGGGGCTCAGGGGGCCCCGGGGGCTCCCTGGGCAGCCGCGGGAGGCGGAGGAAGCTCTACTCAGCGGTACCCGGACGCTCCTTCATGGCTGTGAAGTCCTACCAGGCCCAAGCCGAGGGGGAGATCTCCCTGAGCAAGGGCGAGAAGATCAAAGTACTTAGCATCGGGGAAGGAGGCTTCTGGGAAGGCCAGGTCAAAGGTCGTGTTGGCTGGTTCCCCTCTGACTGCCTGGAAGAAGTGGCGAATCGCTCTCAGGAGAGCAAGCAAGAAAGCCGCAGTGACAAGGCAAAGAGACTCTTCCGGCATTATACCGTGGGCTCCTACGACAGCTTTGATGCCCCAAGCTTAATGGATGGGATTGGCCCAGGGAGCGATTACATCATTAAGGAGAAGACAGTCTTGCTGCAGAAGAAGGACAGTGAGGGGTTTGGGTTCGTGCTCCGGGGGGCCAAGGCGCAGACCCCCATCGAGGAGTTCACCCCCACCCCGGCCTTCCCGGCGCTGCAGTACCTGGAGTCGGTGGACGAGGGTGGCGTGGCATGGCGAGCTGGACTGCGAATGGGAGACTTCCTCATCGAGGTGAACGGGCAGAATGTGGTGAAGGTCGGCCACCGACAGGTGGTGAACATGATCCGCCAAGGGGGCAACACGCTGATGGTGAAGGTGGTGATGGTCACCAGGCACCCGGACATGGATGAGGCAGTGCACAAGAAAGCACCCCAGCAGGCCAAGCGGCTGCCGCCCCCAACCATCTCCCTGCGTTCCAAATCTATGACCTCAGAGCTGGAGGAGATGGAGTACGAGCAGCAGCCGGCGCCGGTGCCCAGCATGGAGAAAAAGCGGACCGTGTATCAGATGGCTCTCAACAAACTGGACGAAATCCTGGCCGCAGCTCAACAGACCATCAGTGCAAGCGAAAGCCCTGGTCCCGGTGGCCTCGCGTCCCTGGGCAAACACCGACCCAAAGGTTTCTTTGCCACTGAGTCGAGCTTCGATCCCCACCACCGTGCCCAGCCAAGTTACGAGCGTCCTTCTTTCCTGCCTCCAGGACCTGGGTTGATGCTCCGGCAAAAATCTATCGGTGCGGCAGAAGATGACAGACCTTACCTAGCACCCCCAGCCATGAAATTCAGCCGCAGCCTGTCTGTGCCTGGTTCGGAGGACATTCCCCCGCCACCCACCACGTCCCCACCGGAGCCTCCCTACAGCACACCTCCAGTCCCCTCCTCCTCAGGGCGCCTCACCCCCTCCCCTCGGGGAGGGCCCTTCAACCCTGGCTCTGGTGGCCCCCTCCCCGCCTCCTCCCCTGCATCCTTTGACGGGCCCTCCCCTCCCGACACTCGCGTGGGGAGCCGCGAGAAGAGCCTGTACCACAGTGGGCCCCTGCCCCCGGCCCACCACCACCCGCCCCACCACCACCACCACCACGCCCCGCCCCCTCAGCCCCACCACCACCACGCCCACCCCCCTCATCCTCCCGAGATGGAGACAGGCGGCTCTCCCGACGACCCTCCACCCCGCCTGGCTCTGGGGCCCCAGCCCAGCCTGCGAGGCTGGAGGGGCGGCGGGCCCAGCCCGACCCCGGGGGCCCCGTCCCCATCGCACCACGGCAGCGCGGGCGGGGGCGGCGGCTCCTCCCAGGGCCCGGCTCTACGCTATTTCCAGCTGCCCCCGCGGGCGGCCAGCGCAGCCATGTACGTGCCCGCCCGCTCGGGCCGCGGCCGCAAGGGCCCGCTGGTCAAGCAGACCAAGGTGGAAGGCGAGCCCCAGAAGGGCGGCGGCCTCCCGCCCGCGCCGTCGCCCACGTCCCCGGCCTCCCCGCAGCCGCCGCCCGCCGTGGCCGCGCCCTCGGAGAAGAACTCCATCCCCATCCCCACCATCATCATCAAGGCCCCGTCCACCAGTAGCAGCGGCCGCAGCAGCCAGGGCAGCAGCACCGAGGCGGAGCCCCCCACCCAGCCGGAGCCCACGGGAGGCGGCGGCGGCGGCGGCTCCTCGCCCAGCCCCGCCCCGGCCATGTCACCCGTGCCCCCGTCCCCCTCGCCCGTGCCCACCCCCGCCTCGCCCAGCGGCCCGGCCACGCTGGACTTCACGAGCCAGTTCGGGGCCGCCCTGGTGGGGGCGGCCCGGAGGGAGGGGGGCTGGCAGAATGAGGCGCGCCGGCGCTCCACGCTGTTCCTGTCCACCGACGCGGGGGACGAGGACGGCGGGGACGGCGGGCTGGGCACAGGGGCGGCCCCGGGCCCGCGGCTGCGCCACTCCAAATCCATCGACGAGGGCATGTTCTCCGCCGAGCCCTACCTCCGACTGGAGTCTGCGGGCAGCGGCGCGGGCTACGGCGGCTACGGGGCCGGTAGCCGAGCCTACGGGGGTGGCGGGGGCAGCAGCGCCTTCACCAGCTTCCTGCCCCCGCGACCCCTGGTGCACCCGCTGACCGGCAAGGCCCTGGATCCCGCCTCCCCGCTGGGGCTGGCCCTGGCCGCCCGCGAGCGAGCGCTGAAGGAGTCCTCGGAGGGCGGCGGGGCCCCCCAGCCGCCTCCCAGGCCCCCATCGCCCCGCTACGAGGCCCCGCCGCCCACCCCGCACCACCACTCGCCCCACGCCCACCACGAGCCAGTGCTGCGTCTCTGGGGGGCCTCCCCGCCGGACCCTGCGCGCCGGGAGCTGGGGTACAGGGCCGGGCTGGGCAGCCAGGAGAAGTCCCTTCCCGCCAGCCCGCCCGCCGCCCGGCGTTCCCTGCTACACCGCCTGCCGCCCACCGCTCCCGGGGTGGGGCCCCTCCTGCTGCAGCTGGGGACGGAGCCCCCGGCCCCGCACCCCGGAGTAAGCAAGCCCTGGAGGTCCGCAGCCCCCGAAGAACCCGAGCGGCTGCCGCTGCACGTGCGGTTCCTTGAAAACTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCCCCTCGGAGGACGGGCCGGGGGTCCCGCCGCCCAGCCCACGCCGGTCCGTGCCCCCCTCCCCGACCTCCCCGAGGGCCAGCGAAGAGAACGGGCTGCCCCTGCTGGTCCTGCCGCCTCCCGCCCCCTCGGTGGATGTGGAAGATGGCGAATTCCTTTTCGTGGAACCGCTGCCTCCGCCTCTGGAATTCTCCAACAGCTTCGAAAAGCCAGAGTCGCCCCTCACGCCTGGGCCTCCCCACCCGCTGCCCGACACACCTGCCCCTGCCACCCCGTTACCCCCTGTGCCACCCCCGGCTGTGGCCGCAGCCCCTCCCACCCTGGACTCCACCGCATCCAGCCTGACATCCTATGACAGCGAGGTGGCCACCCTGACCCAGGGGGCCTCCGCCGCTCCTGGGGACCCCCATCCACCAGGCCCGCCTGCCCCAGCAGCACCGGCTCCCGCTGCCCCACAGCCTGGCCCGGACCCTCCGCCTGGCACGGATTCTGGCATCGAGGAGGTGGACAGTCGGAGCAGCAGTGACCACCCACTGGAGACCATCAGCAGCGCCTCCACGCTGAGCAGCCTATCTGCCGAAGGTGGTGGCAGCGCAGGGGGTGGGGGCGGGGCTGGGGCCGGTGTGGCCAGTGGGCCGGAGCTTCTGGACACCTATGTGGCCTACCTGGACGGCCAGGCCTTTGGGGGCAGCAGTACTCCCGGCCCGCCATACCCTCCTCAGCTCATGACTCCCTCTAAGCTCCGGGGCCGGGCGCTAGGAGCCAGCGGAGGCCTGCGGCCTGGCCCCAGCGGGGGACTCCGAGACCCTGTTACCCCCACCAGCCCCACCGTCTCGGTGACAGGGGCTGGAACCGATGGGCTGCTGGCCCTGCGTGCTTGTTCAGGACCCCCCACGGCAGGCGTGGCGGGGGGTCCGGTGGCTGTAGAGCCAGAAGTCCCACCGGTGCCCTTGCCGACGGCCTCCTCTCTGCCCCGGAAGCTGCTGCCCTGGGAGGAGGGCCCGGGCCCACCGCCACCACCTCTGCCCGGGCCCTTGGCCCAGCCTCAGGCCTCAGCCTTGGCCACAGTAAAAGCCAGCATCATCAGTGAACTCAGCTCCAAGCTTCAGCAGTTTGGGGGCTCCTCGGCAGCTGGCGGCGCTCTGCCCTGGGCCCGAGGAGGCAGTGGGGGAGGCGGAGACAGCCACCACGGGGGAGCCAGCTATGTCCCCGAGAGGACCTCCTCCCTGCAGCGGCAGAGACTCTCCGACGACTCCCAGTCCTCACTCCTCTCCAAGCCTGTCAGCAGCCTGTTTCAGAACTGGCCCAAACCACCTCTGCCGCCACTCCCCACCGGAACAGGGGTCTCCCCTACAGCCGCTGCGGCCCCAGGGGCCACCTCACCCTCAGCCTCCTCCTCCTCCACGTCCACCCGCCACCTCCAGGGCGTGGAGTTCGAGATGCGGCCCCCTCTGCTCCGCCGGGCCCCCAGCCCCTCGCTGCTGCCCGCCTCGGAGCACAAGGTCAGCCCTGCGCCCAGGCCCTCGTCCCTGCCCATCCTGCCTTCCGGACCCCTCTACCCAGGCCTCTTTGACATCCGTGGCTCCCCAACTGGAGGGGCAGGAGGCTCGGCTGACCCCTTCGCCCCAGTCTTTGTGCCGCCACACCCGGGGATATCCGGGGGGCTCGGGGGAGCCTTGTCAGGGGCCTCGCGCTCCCTCTCACCGACCCGCCTGCTCTCGCTGCCCCCGGACAAGCCGTTTGGCGCTAAACCTCTGGGGTTCTGGACCAAGTTCGACGTGGCTGATTGGCTGGAGTGGCTGGGTTTGGCGGAGCACCGAGCCCAGTTCCTGGACCACGAGATCGATGGCTCCCACCTGCCCGCCTTGACCAAGGAGGACTACGTCGATCTAGGTGTGACCAGGGTGGGCCACCGCATGAACATCGACCGGGCTCTCAAATTCTTCCTGGAGAGGTGA
Amino sequence
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGLKKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKETCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGSLGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRVGWFPSDCLEEVANRSQESKQESRSDKAKRLFRHYTVGSYDSFDAPSLMDGIGPGSDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGDFLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIGAAEDDRPYLAPPAMKFSRSLSVPGSEDIPPPPTTSPPEPPYSTPPVPSSSGRLTPSPRGGPFNPGSGGPLPASSPASFDGPSPPDTRVGSREKSLYHSGPLPPAHHHPPHHHHHHAPPPQPHHHHAHPPHPPEMETGGSPDDPPPRLALGPQPSLRGWRGGGPSPTPGAPSPSHHGSAGGGGGSSQGPALRYFQLPPRAASAAMYVPARSGRGRKGPLVKQTKVEGEPQKGGGLPPAPSPTSPASPQPPPAVAAPSEKNSIPIPTIIIKAPSTSSSGRSSQGSSTEAEPPTQPEPTGGGGGGGSSPSPAPAMSPVPPSPSPVPTPASPSGPATLDFTSQFGAALVGAARREGGWQNEARRRSTLFLSTDAGDEDGGDGGLGTGAAPGPRLRHSKSIDEGMFSAEPYLRLESAGSGAGYGGYGAGSRAYGGGGGSSAFTSFLPPRPLVHPLTGKALDPASPLGLALAARERALKESSEGGGAPQPPPRPPSPRYEAPPPTPHHHSPHAHHEPVLRLWGASPPDPARRELGYRAGLGSQEKSLPASPPAARRSLLHRLPPTAPGVGPLLLQLGTEPPAPHPGVSKPWRSAAPEEPERLPLHVRFLENCQPRAPVTSGRGPPSEDGPGVPPPSPRRSVPPSPTSPRASEENGLPLLVLPPPAPSVDVEDGEFLFVEPLPPPLEFSNSFEKPESPLTPGPPHPLPDTPAPATPLPPVPPPAVAAAPPTLDSTASSLTSYDSEVATLTQGASAAPGDPHPPGPPAPAAPAPAAPQPGPDPPPGTDSGIEEVDSRSSSDHPLETISSASTLSSLSAEGGGSAGGGGGAGAGVASGPELLDTYVAYLDGQAFGGSSTPGPPYPPQLMTPSKLRGRALGASGGLRPGPSGGLRDPVTPTSPTVSVTGAGTDGLLALRACSGPPTAGVAGGPVAVEPEVPPVPLPTASSLPRKLLPWEEGPGPPPPPLPGPLAQPQASALATVKASIISELSSKLQQFGGSSAAGGALPWARGGSGGGGDSHHGGASYVPERTSSLQRQRLSDDSQSSLLSKPVSSLFQNWPKPPLPPLPTGTGVSPTAAAAPGATSPSASSSSTSTRHLQGVEFEMRPPLLRRAPSPSLLPASEHKVSPAPRPSSLPILPSGPLYPGLFDIRGSPTGGAGGSADPFAPVFVPPHPGISGGLGGALSGASRSLSPTRLLSLPPDKPFGAKPLGFWTKFDVADWLEWLGLAEHRAQFLDHEIDGSHLPALTKEDYVDLGVTRVGHRMNIDRALKFFLER*