ENST00000293441.6 SHANK1

Information
Transcript ID
ENST00000293441.6
Genome
hg19
Position
chr19:51,162,512-51,223,059
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 51,162,512 51,165,939
23 51,169,449 51,172,542
22 51,175,275 51,175,371
21 51,189,494 51,189,612
20 51,190,001 51,190,069
19 51,190,839 51,190,919
18 51,191,180 51,191,315
17 51,192,101 51,192,225
16 51,192,454 51,192,536
15 51,200,353 51,200,379
14 51,200,846 51,200,921
13 51,201,100 51,201,213
12 51,205,724 51,205,917
11 51,206,757 51,207,087
10 51,207,377 51,207,443
9 51,207,694 51,207,771
8 51,214,628 51,214,744
7 51,215,204 51,215,371
6 51,217,055 51,217,206
5 51,217,439 51,217,547
4 51,218,916 51,218,987
3 51,219,532 51,219,735
2 51,219,922 51,220,219
1 51,222,663 51,223,059
CDS
Exon number Type Start Stop
24 CDS 51,165,222 51,165,939
23 CDS 51,169,449 51,172,542
22 CDS 51,175,275 51,175,371
21 CDS 51,189,494 51,189,612
20 CDS 51,190,001 51,190,069
19 CDS 51,190,839 51,190,919
18 CDS 51,191,180 51,191,315
17 CDS 51,192,101 51,192,225
16 CDS 51,192,454 51,192,536
15 CDS 51,200,353 51,200,379
14 CDS 51,200,846 51,200,921
13 CDS 51,201,100 51,201,213
12 CDS 51,205,724 51,205,917
11 CDS 51,206,757 51,207,087
10 CDS 51,207,377 51,207,443
9 CDS 51,207,694 51,207,771
8 CDS 51,214,628 51,214,744
7 CDS 51,215,204 51,215,371
6 CDS 51,217,055 51,217,206
5 CDS 51,217,439 51,217,547
4 CDS 51,218,916 51,218,987
3 CDS 51,219,532 51,219,735
2 CDS 51,219,922 51,220,176
Other genome
Genome Chromosome Start End Links
hg38 chr19 50,659,255 50,719,802 Link
CDS sequence
ATGACCCACAGCCCCGCGACAAGCGAGGACGAGGAACGCCACAGTGCCAGCGAGTGTCCCGAGGGGGGCTCAGAGTCCGACAGCTCCCCAGACGGGCCAGGTCGAGGCCCCCGGGGGACCCGGGGCCAGGGCAGTGGGGCACCTGGTAGCCTGGCCTCTGTTAGAGGCCTCCAGGGCCGCTCAATGTCCGTCCCAGACGACGCCCACTTCAGCATGATGGTCTTCAGGATTGGCATCCCGGACCTGCACCAGACAAAATGCCTTCGCTTCAACCCCGATGCCACCATCTGGACGGCCAAGCAGCAGGTGCTCTGTGCCCTGAGCGAGAGCCTGCAGGATGTGCTCAACTATGGCCTGTTCCAACCGGCCACCTCCGGCCGCGATGCCAACTTCCTGGAGGAGGAGAGGCTGCTGCGGGAGTACCCCCAGTCCTTTGAGAAGGGGGTCCCCTACCTGGAGTTCCGATACAAGACCCGAGTTTACAAACAGACCAACCTGGATGAGAAGCAGCTGGCCAAGTTGCACACGAAGACGGGGTTGAAGAAGTTCCTGGAGTATGTGCAGCTCGGGACATCTGACAAGGTGGCGCGGCTGCTGGACAAGGGGCTGGACCCCAATTACCATGACTCGGATTCGGGAGAGACCCCCTTGACACTGGCGGCCCAGACCGAAGGCTCTGTAGAGGTGATTCGAACCCTGTGCCTGGGCGGGGCCCACATTGACTTCCGGGCCCGGGATGGCATGACCGCACTGCATAAGGCCGCATGCGCCCGACACTGCCTGGCACTCACGGCGCTCCTGGACCTTGGGGGTTCCCCCAACTACAAGGACCGTCGGGGGCTGACCCCTCTGTTCCACACGGCCATGGTGGGTGGTGACCCCCGATGCTGCGAGCTGCTCCTGTTCAACAGGGCCCAGCTGGGCATAGCTGATGAGAACGGCTGGCAGGAAATCCACCAGGCCTGCCAGCGGGGTCACTCTCAGCACCTGGAGCATCTGCTTTTCTACGGGGCTGAGCCTGGAGCCCAGAACGCCTCGGGGAACACGGCTCTGCACATCTGCGCCCTCTACAACAAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTGGCAGTGATTGCTGGGAATTTTGAGCTGGGGGAGCTGATCCGAAACCACCGAGAACAGGATGTGGTGCCCTTCCAGGAGTCCCCCAAGTACGCGGCCCGGCGACGGGGGCCCCCAGGCACAGGGCTGACGGTGCCCCCGGCGCTGCTGCGGGCCAACAGTGACACCAGCATGGCGCTGCCCGACTGGATGGTGTTCTCCGCCCCGGGGGCCGCGTCCTCTGGGGCCCCTGGCCCTACCTCAGGGTCCCAGGGCCAGTCGCAGCCCTCGGCCCCCACCACCAAGCTCAGCAGCGGGACCCTCCGAAGTGCCAGCAGCCCCCGGGGTGCCAGGGCCCGCTCTCCATCCCGAGGGAGGCACCCTGAGGACGCCAAGAGGCAGCCCCGAGGCCGGCCCAGCTCCAGCGGGACACCCCGGGAAGGGCCAGCCGGGGGCACGGGGGGCTCAGGGGGCCCCGGGGGCTCCCTGGGCAGCCGCGGGAGGCGGAGGAAGCTCTACTCAGCGGTACCCGGACGCTCCTTCATGGCTGTGAAGTCCTACCAGGCCCAAGCCGAGGGGGAGATCTCCCTGAGCAAGGGCGAGAAGATCAAAGTACTTAGCATCGGGGAAGGAGGCTTCTGGGAAGGCCAGGTCAAAGGTCGTGTTGGCTGGTTCCCCTCTGACTGCCTGGAAGAAGTGGCGAATCGCTCTCAGGAGAGCAAGCAAGAAAGCCGCAGTGACAAGGCAAAGAGACTCTTCCGGCATTATACCGTGGGCTCCTACGACAGCTTTGATGCCCCAAGCTTAATGGATGGGATTGGCCCAGGGAGCGATTACATCATTAAGGAGAAGACAGTCTTGCTGCAGAAGAAGGACAGTGAGGGGTTTGGGTTCGTGCTCCGGGGGGCCAAGGCGCAGACCCCCATCGAGGAGTTCACCCCCACCCCGGCCTTCCCGGCGCTGCAGTACCTGGAGTCGGTGGACGAGGGTGGCGTGGCATGGCGAGCTGGACTGCGAATGGGAGACTTCCTCATCGAGGTGAACGGGCAGAATGTGGTGAAGGTCGGCCACCGACAGGTGGTGAACATGATCCGCCAAGGGGGCAACACGCTGATGGTGAAGGTGGTGATGGTCACCAGGCACCCGGACATGGATGAGGCAGTGCACAAGAAAGCACCCCAGCAGGCCAAGCGGCTGCCGCCCCCAACCATCTCCCTGCGTTCCAAATCTATGACCTCAGAGCTGGAGGAGATGGAGTACGAGCAGCAGCCGGCGCCGGTGCCCAGCATGGAGAAAAAGCGGACCGTGTATCAGATGGCTCTCAACAAACTGGACGAAATCCTGGCCGCAGCTCAACAGACCATCAGTGCAAGCGAAAGCCCTGGTCCCGGTGGCCTCGCGTCCCTGGGCAAACACCGACCCAAAGGTTTCTTTGCCACTGAGTCGAGCTTCGATCCCCACCACCGTGCCCAGCCAAGTTACGAGCGTCCTTCTTTCCTGCCTCCAGGACCTGGGTTGATGCTCCGGCAAAAATCTATCGGTGCGGCAGAAGATGACAGACCTTACCTAGCACCCCCAGCCATGAAATTCAGCCGCAGCCTGTCTGTGCCTGGTTCGGAGGACATTCCCCCGCCACCCACCACGTCCCCACCGGAGCCTCCCTACAGCACACCTCCAGTCCCCTCCTCCTCAGGGCGCCTCACCCCCTCCCCTCGGGGAGGGCCCTTCAACCCTGGCTCTGGTGGCCCCCTCCCCGCCTCCTCCCCTGCATCCTTTGACGGGCCCTCCCCTCCCGACACTCGCGTGGGGAGCCGCGAGAAGAGCCTGTACCACAGTGGGCCCCTGCCCCCGGCCCACCACCACCCGCCCCACCACCACCACCACCACGCCCCGCCCCCTCAGCCCCACCACCACCACGCCCACCCCCCTCATCCTCCCGAGATGGAGACAGGCGGCTCTCCCGACGACCCTCCACCCCGCCTGGCTCTGGGGCCCCAGCCCAGCCTGCGAGGCTGGAGGGGCGGCGGGCCCAGCCCGACCCCGGGGGCCCCGTCCCCATCGCACCACGGCAGCGCGGGCGGGGGCGGCGGCTCCTCCCAGGGCCCGGCTCTACGCTATTTCCAGCTGCCCCCGCGGGCGGCCAGCGCAGCCATGTACGTGCCCGCCCGCTCGGGCCGCGGCCGCAAGGGCCCGCTGGTCAAGCAGACCAAGGTGGAAGGCGAGCCCCAGAAGGGCGGCGGCCTCCCGCCCGCGCCGTCGCCCACGTCCCCGGCCTCCCCGCAGCCGCCGCCCGCCGTGGCCGCGCCCTCGGAGAAGAACTCCATCCCCATCCCCACCATCATCATCAAGGCCCCGTCCACCAGTAGCAGCGGCCGCAGCAGCCAGGGCAGCAGCACCGAGGCGGAGCCCCCCACCCAGCCGGAGCCCACGGGAGGCGGCGGCGGCGGCGGCTCCTCGCCCAGCCCCGCCCCGGCCATGTCACCCGTGCCCCCGTCCCCCTCGCCCGTGCCCACCCCCGCCTCGCCCAGCGGCCCGGCCACGCTGGACTTCACGAGCCAGTTCGGGGCCGCCCTGGTGGGGGCGGCCCGGAGGGAGGGGGGCTGGCAGAATGAGGCGCGCCGGCGCTCCACGCTGTTCCTGTCCACCGACGCGGGGGACGAGGACGGCGGGGACGGCGGGCTGGGCACAGGGGCGGCCCCGGGCCCGCGGCTGCGCCACTCCAAATCCATCGACGAGGGCATGTTCTCCGCCGAGCCCTACCTCCGACTGGAGTCTGCGGGCAGCGGCGCGGGCTACGGCGGCTACGGGGCCGGTAGCCGAGCCTACGGGGGTGGCGGGGGCAGCAGCGCCTTCACCAGCTTCCTGCCCCCGCGACCCCTGGTGCACCCGCTGACCGGCAAGGCCCTGGATCCCGCCTCCCCGCTGGGGCTGGCCCTGGCCGCCCGCGAGCGAGCGCTGAAGGAGTCCTCGGAGGGCGGCGGGGCCCCCCAGCCGCCTCCCAGGCCCCCATCGCCCCGCTACGAGGCCCCGCCGCCCACCCCGCACCACCACTCGCCCCACGCCCACCACGAGCCAGTGCTGCGTCTCTGGGGGGCCTCCCCGCCGGACCCTGCGCGCCGGGAGCTGGGGTACAGGGCCGGGCTGGGCAGCCAGGAGAAGTCCCTTCCCGCCAGCCCGCCCGCCGCCCGGCGTTCCCTGCTACACCGCCTGCCGCCCACCGCTCCCGGGGTGGGGCCCCTCCTGCTGCAGCTGGGGACGGAGCCCCCGGCCCCGCACCCCGGAGTAAGCAAGCCCTGGAGGTCCGCAGCCCCCGAAGAACCCGAGCGGCTGCCGCTGCACGTGCGGTTCCTTGAAAACTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCCCCTCGGAGGACGGGCCGGGGGTCCCGCCGCCCAGCCCACGCCGGTCCGTGCCCCCCTCCCCGACCTCCCCGAGGGCCAGCGAAGAGAACGGGCTGCCCCTGCTGGTCCTGCCGCCTCCCGCCCCCTCGGTGGATGTGGAAGATGGCGAATTCCTTTTCGTGGAACCGCTGCCTCCGCCTCTGGAATTCTCCAACAGCTTCGAAAAGCCAGAGTCGCCCCTCACGCCTGGGCCTCCCCACCCGCTGCCCGACACACCTGCCCCTGCCACCCCGTTACCCCCTGTGCCACCCCCGGCTGTGGCCGCAGCCCCTCCCACCCTGGACTCCACCGCATCCAGCCTGACATCCTATGACAGCGAGGTGGCCACCCTGACCCAGGGGGCCTCCGCCGCTCCTGGGGACCCCCATCCACCAGGCCCGCCTGCCCCAGCAGCACCGGCTCCCGCTGCCCCACAGCCTGGCCCGGACCCTCCGCCTGGCACGGATTCTGGCATCGAGGAGGTGGACAGTCGGAGCAGCAGTGACCACCCACTGGAGACCATCAGCAGCGCCTCCACGCTGAGCAGCCTATCTGCCGAAGGTGGTGGCAGCGCAGGGGGTGGGGGCGGGGCTGGGGCCGGTGTGGCCAGTGGGCCGGAGCTTCTGGACACCTATGTGGCCTACCTGGACGGCCAGGCCTTTGGGGGCAGCAGTACTCCCGGCCCGCCATACCCTCCTCAGCTCATGACTCCCTCTAAGCTCCGGGGCCGGGCGCTAGGAGCCAGCGGAGGCCTGCGGCCTGGCCCCAGCGGGGGACTCCGAGACCCTGTTACCCCCACCAGCCCCACCGTCTCGGTGACAGGGGCTGGAACCGATGGGCTGCTGGCCCTGCGTGCTTGTTCAGGACCCCCCACGGCAGGCGTGGCGGGGGGTCCGGTGGCTGTAGAGCCAGAAGTCCCACCGGTGCCCTTGCCGACGGCCTCCTCTCTGCCCCGGAAGCTGCTGCCCTGGGAGGAGGGCCCGGGCCCACCGCCACCACCTCTGCCCGGGCCCTTGGCCCAGCCTCAGGCCTCAGCCTTGGCCACAGTAAAAGCCAGCATCATCAGTGAACTCAGCTCCAAGCTTCAGCAGTTTGGGGGCTCCTCGGCAGCTGGCGGCGCTCTGCCCTGGGCCCGAGGAGGCAGTGGGGGAGGCGGAGACAGCCACCACGGGGGAGCCAGCTATGTCCCCGAGAGGACCTCCTCCCTGCAGCGGCAGAGACTCTCCGACGACTCCCAGTCCTCACTCCTCTCCAAGCCTGTCAGCAGCCTGTTTCAGAACTGGCCCAAACCACCTCTGCCGCCACTCCCCACCGGAACAGGGGTCTCCCCTACAGCCGCTGCGGCCCCAGGGGCCACCTCACCCTCAGCCTCCTCCTCCTCCACGTCCACCCGCCACCTCCAGGGCGTGGAGTTCGAGATGCGGCCCCCTCTGCTCCGCCGGGCCCCCAGCCCCTCGCTGCTGCCCGCCTCGGAGCACAAGGTCAGCCCTGCGCCCAGGCCCTCGTCCCTGCCCATCCTGCCTTCCGGACCCCTCTACCCAGGCCTCTTTGACATCCGTGGCTCCCCAACTGGAGGGGCAGGAGGCTCGGCTGACCCCTTCGCCCCAGTCTTTGTGCCGCCACACCCGGGGATATCCGGGGGGCTCGGGGGAGCCTTGTCAGGGGCCTCGCGCTCCCTCTCACCGACCCGCCTGCTCTCGCTGCCCCCGGACAAGCCGTTTGGCGCTAAACCTCTGGGGTTCTGGACCAAGTTCGACGTGGCTGATTGGCTGGAGTGGCTGGGTTTGGCGGAGCACCGAGCCCAGTTCCTGGACCACGAGATCGATGGCTCCCACCTGCCCGCCTTGACCAAGGAGGACTACGTCGATCTAGGTGTGACCAGGGTGGGCCACCGCATGAACATCGACCGGGCTCTCAAATTCTTCCTGGAGAGGTGA
Amino sequence
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGLKKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKETCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGSLGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRVGWFPSDCLEEVANRSQESKQESRSDKAKRLFRHYTVGSYDSFDAPSLMDGIGPGSDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGDFLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIGAAEDDRPYLAPPAMKFSRSLSVPGSEDIPPPPTTSPPEPPYSTPPVPSSSGRLTPSPRGGPFNPGSGGPLPASSPASFDGPSPPDTRVGSREKSLYHSGPLPPAHHHPPHHHHHHAPPPQPHHHHAHPPHPPEMETGGSPDDPPPRLALGPQPSLRGWRGGGPSPTPGAPSPSHHGSAGGGGGSSQGPALRYFQLPPRAASAAMYVPARSGRGRKGPLVKQTKVEGEPQKGGGLPPAPSPTSPASPQPPPAVAAPSEKNSIPIPTIIIKAPSTSSSGRSSQGSSTEAEPPTQPEPTGGGGGGGSSPSPAPAMSPVPPSPSPVPTPASPSGPATLDFTSQFGAALVGAARREGGWQNEARRRSTLFLSTDAGDEDGGDGGLGTGAAPGPRLRHSKSIDEGMFSAEPYLRLESAGSGAGYGGYGAGSRAYGGGGGSSAFTSFLPPRPLVHPLTGKALDPASPLGLALAARERALKESSEGGGAPQPPPRPPSPRYEAPPPTPHHHSPHAHHEPVLRLWGASPPDPARRELGYRAGLGSQEKSLPASPPAARRSLLHRLPPTAPGVGPLLLQLGTEPPAPHPGVSKPWRSAAPEEPERLPLHVRFLENCQPRAPVTSGRGPPSEDGPGVPPPSPRRSVPPSPTSPRASEENGLPLLVLPPPAPSVDVEDGEFLFVEPLPPPLEFSNSFEKPESPLTPGPPHPLPDTPAPATPLPPVPPPAVAAAPPTLDSTASSLTSYDSEVATLTQGASAAPGDPHPPGPPAPAAPAPAAPQPGPDPPPGTDSGIEEVDSRSSSDHPLETISSASTLSSLSAEGGGSAGGGGGAGAGVASGPELLDTYVAYLDGQAFGGSSTPGPPYPPQLMTPSKLRGRALGASGGLRPGPSGGLRDPVTPTSPTVSVTGAGTDGLLALRACSGPPTAGVAGGPVAVEPEVPPVPLPTASSLPRKLLPWEEGPGPPPPPLPGPLAQPQASALATVKASIISELSSKLQQFGGSSAAGGALPWARGGSGGGGDSHHGGASYVPERTSSLQRQRLSDDSQSSLLSKPVSSLFQNWPKPPLPPLPTGTGVSPTAAAAPGATSPSASSSSTSTRHLQGVEFEMRPPLLRRAPSPSLLPASEHKVSPAPRPSSLPILPSGPLYPGLFDIRGSPTGGAGGSADPFAPVFVPPHPGISGGLGGALSGASRSLSPTRLLSLPPDKPFGAKPLGFWTKFDVADWLEWLGLAEHRAQFLDHEIDGSHLPALTKEDYVDLGVTRVGHRMNIDRALKFFLER*