Information

Transcript ID: ENST00000381679.8
Genome: hg38
Position: chr21:33,543,065-33,559,056
Strand: +
CDS length: 6,327
Amino acid length: 2,109
Gene symbol: SON
Gene type: protein-coding
Gene description: SON DNA and RNA binding protein
Gene Entrez Gene ID: 6651

Variants

Display target variant

MGeND data only All data

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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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Exon

Exon number	Start	Stop
1	33,543,065	33,543,169
2	33,546,213	33,546,379
3	33,549,476	33,555,391
4	33,557,156	33,557,316
5	33,557,546	33,559,056

CDS

Exon number	Type	Start	Stop
1	CDS	33,543,093	33,543,169
2	CDS	33,546,213	33,546,379
3	CDS	33,549,476	33,555,391
4	CDS	33,557,156	33,557,316
5	CDS	33,557,546	33,557,551

Other genome

Genome	Chromosome	Start	End	Links
hg19	chr21	34,915,371	34,931,362	Link

CDS sequence

ATGGCGACCAACATCGAGCAGATTTTTAGGTCTTTCGTGGTCAGTAAATTCCGGGAAATTCAACAGGAGCTTTCCAGTGGAAGGAATGAAGGCCAGCTGAATGGTGAAACAAATACACCCATTGAAGGAAACCAGGCGGGTGATGCAGCTGCCTCTGCCAGGAGTCTACCAAATGAAGAAATAGTGCAGAAGATAGAGGAAGTACTTTCTGGGGTCTTAGATACAGAACTACGATATAAGCCAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAGCATTTGGCCCATCTGAGACCAATGAATCCCCTGCAGTTGTGCTAGAACCTCCTGTAGTATCAATGGAGGTATCAGAGCCACACATCTTAGAAACTCTGAAGCCAGCTACAAAAACTGCAGAACTGTCAGTTGTATCTACATCAGTAATCTCAGAGCAGTCAGAGCAGTCTGTGGCAGTAATGCCAGAACCATCCATGACAAAGATTCTGGATTCCTTTGCAGCAGCACCAGTGCCTACTACAACACTGGTGTTGAAGTCATCTGAGCCAGTTGTAACAATGTCAGTGGAGTATCAGATGAAGTCTGTGCTGAAATCTGTGGAGAGCACATCTCCAGAGCCATCAAAGATCATGTTGGTAGAGCCCCCAGTAGCAAAAGTGTTAGAGCCTTCAGAAACCCTTGTGGTATCATCAGAGACACCTACTGAGGTGTACCCTGAGCCAAGCACATCAACAACAATGGATTTTCCAGAGTCATCTGCAATTGAAGCGCTAAGATTGCCAGAGCAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCCAGGGCTTCCAGCACCATCCATGGGGTTGGAGCCACCACAGGAGGTACCAGAGCCACCTGTGATGGCACAGGAGTTGCCAGGGCTGCCTTTGGTGACAGCAGCAGTAGAGTTGCCAGAGCAGCCTGCGGTAACAGTAGCAATGGAGTTGACCGAACAACCTGTGACGACGACAGAGTTGGAGCAGCCTGTGGGGATGACAACGGTGGAACATCCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTGCTGGGGCAGCCTGAGGCAACGATGGTGCTGGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGCTCTATGATGTCTTATGAGCGGTCTATGATGTCCCCTATGGCTGAACGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCCCCTATGGCTGAGCGCTCTATGATGTCAGCTTATGAACGCTCCATGATGTCAGCTTATGAACGCTCCATGATGTCCCCAATGGCTGATCGATCTATGATGTCCATGGGTGCTGACCGGTCTATGATGTCGTCATACTCTGCTGCTGACCGGTCTATGATGTCATCGTACTCTGCAGCTGACCGATCTATGATGTCATCTTATACTGCTGATCGTTCAATGATGTCTATGGCTGCTGATTCTTACACCGATTCTTACACTGACACATATACAGAGGCATATATGGTGCCACCTTTGCCTCCTGAAGAGCCCCCAACAATGCCACCGTTGCCACCTGAGGAGCCACCAATGACACCACCATTGCCTCCTGAGGAACCACCAGAGGGTCCAGCATTGCCCACTGAGCAGTCAGCATTAACAGCTGAAAATACTTGGCCTACAGAGGTGCCATCATCACCATCTGAAGAGTCTGTATCGCAGCCTGAGCCTCCTGTGAGTCAAAGTGAGATTTCGGAGCCTTCAGCAGTGCCTACTGATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGAGTCTTCGACTGTAACTGTCCTGGAGCCTTCGGTTGTGACTGTCCCGGAGCCTCCTGTTGTGGCTGAGCCAGACTATGTTACCATTCCTGTGCCAGTTGTTTCTGCGCTGGAGCCTTCTGTGCCTGTTCTGGAACCAGCGGTGTCAGTCCTTCAACCTTCTATGATTGTTTCAGAACCATCTGTTTCTGTCCAGGAATCGACTGTGACAGTTTCAGAGCCTGCTGTCACAGTCTCAGAGCAGACTCAAGTAATACCAACTGAGGTGGCTATAGAGTCCACACCAATGATACTGGAATCTAGTATCATGTCATCACATGTTATGAAAGGAATTAATCTATCCTCTGGTGATCAAAATCTTGCTCCAGAGATTGGCATGCAGGAGATTGCATTGCATTCAGGTGAAGAACCACATGCTGAGGAACACCTGAAAGGTGACTTTTACGAAAGTGAACATGGTATAAATATAGACCTTAATATAAATAATCATTTAATTGCTAAAGAGATGGAACATAATACAGTGTGTGCTGCTGGTACTAGTCCTGTTGGGGAAATTGGTGAAGAGAAAATTTTGCCCACCAGTGAGACTAAACAGCGCACAGTATTGGATACCTACCCTGGTGTTAGTGAAGCTGATGCAGGAGAAACTCTATCTTCTACTGGTCCTTTTGCTCTGGAACCTGATGCAACAGGAACTAGTAAGGGTATTGAATTTACCACAGCATCTACTCTCAGTTTAGTTAATAAATATGATGTTGATTTATCTTTAACTACTCAAGATACTGAACATGACATGGTAATTTCCACCAGTCCTAGTGGTGGTAGTGAAGCTGACATTGAAGGGCCTTTGCCTGCTAAAGATATTCATCTTGATTTACCATCTAATAATAACCTTGTTAGTAAGGATACAGAAGAACCATTACCTGTAAAAGAGAGTGACCAGACATTAGCAGCTCTGCTCAGCCCTAAAGAAAGTAGTGGAGGAGAAAAAGAAGTACCTCCCCCTCCTAAAGAGACACTGCCTGATTCAGGATTTTCTGCCAATATTGAGGATATTAATGAAGCAGATTTAGTGAGACCGTTACTTCCTAAGGACATGGAACGTCTTACAAGCCTTAGAGCTGGCATTGAAGGACCTTTACTTGCAAGTGATGTTGGACGTGACAGATCTGCTGCCAGCCCGGTTGTAAGTAGTATGCCAGAAAGAGCTTCAGAGTCTTCTTCAGAGGAAAAAGATGATTATGAAATTTTTGTAAAAGTTAAGGACACTCACGAAAAAAGCAAGAAAAATAAGAACCGTGATAAGGGGGAGAAAGAGAAGAAAAGAGACTCTTCATTAAGATCTCGAAGTAAGCGTTCCAAATCTTCTGAACACAAATCACGCAAGCGTACCAGTGAATCTCGTTCTAGGGCAAGAAAGAGATCATCTAAGTCCAAGTCTCATCGCTCTCAGACACGTTCACGGTCACGTTCAAGACGCAGGAGGAGAAGCAGCAGATCAAGATCAAAGTCTAGAGGAAGAAGATCTGTATCAAAAGAGAAGCGCAAAAGATCTCCAAAGCACAGATCCAAGTCTAGGGAAAGAAAAAGAAAAAGATCAAGCTCCAGGGATAACCGAAAGACAGTTAGAGCTCGAAGTCGAACCCCAAGTCGTCGGAGTCGGAGTCATACTCCAAGTCGTCGACGAAGGTCTAGATCTGTGGGTAGAAGAAGGAGCTTTAGCATTTCCCCAAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCCAGCCGCCGGAGCCGCACCCCTAGCCGTCGGAGCCGCACCCCAAGCCGCCGGAGAAGATCAAGGTCTGTGGTAAGAAGACGAAGCTTCAGTATCTCACCAGTCAGATTAAGGCGATCAAGAACACCCTTAAGAAGAAGGTTTAGCAGATCTCCCATCCGTCGTAAAAGATCCAGGTCTTCTGAACGAGGCAGATCACCCAAACGTCTGACAGATTTGGATAAGGCTCAATTACTTGAAATAGCCAAAGCTAATGCAGCTGCCATGTGTGCTAAGGCTGGTGTCCCTTTACCACCAAACCTAAAGCCTGCACCTCCACCTACTATAGAAGAGAAAGTTGCTAAAAAGTCAGGAGGAGCTACTATAGAAGAACTAACTGAGTTTTAG

Amino sequence

MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDLKEGSRKSRCVSVQTDPTDEIPTKKSKKHKKHKNKKKKKKKEKEKKYKRQPEESESKTKSHDDGNIDLESDSFLKFDSEPSAVALELPTRAFGPSETNESPAVVLEPPVVSMEVSEPHILETLKPATKTAELSVVSTSVISEQSEQSVAVMPEPSMTKILDSFAAAPVPTTTLVLKSSEPVVTMSVEYQMKSVLKSVESTSPEPSKIMLVEPPVAKVLEPSETLVVSSETPTEVYPEPSTSTTMDFPESSAIEALRLPEQPVDVPSEIADSSMTRPQELPELPKTTALELQESSVASAMELPGPPATSMPELQGPPVTPVLELPGPSATPVPELPGPLSTPVPELPGPPATAVPELPGPSVTPVPQLSQELPGLPAPSMGLEPPQEVPEPPVMAQELPGLPLVTAAVELPEQPAVTVAMELTEQPVTTTELEQPVGMTTVEHPGHPEVTTATGLLGQPEATMVLELPGQPVATTALELPGQPSVTGVPELPGLPSATRALELSGQPVATGALELPGPLMAAGALEFSGQSGAAGALELLGQPLATGVLELPGQPGAPELPGQPVATVALEISVQSVVTTSELSTMTVSQSLEVPSTTALESYNTVAQELPTTLVGETSVTVGVDPLMAPESHILASNTMETHILASNTMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSTMDSQMLATSSMDSQMLASGTMDSQMLASGTMDAQMLASGTMDAQMLASSTQDSAMLGSKSPDPYRLAQDPYRLAQDPYRLGHDPYRLGHDAYRLGQDPYRLGHDPYRLTPDPYRMSPRPYRIAPRSYRIAPRPYRLAPRPLMLASRRSMMMSYAAERSMMSSYERSMMSYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMADRSMMSMGADRSMMSSYSAADRSMMSSYSAADRSMMSSYTADRSMMSMAADSYTDSYTDTYTEAYMVPPLPPEEPPTMPPLPPEEPPMTPPLPPEEPPEGPALPTEQSALTAENTWPTEVPSSPSEESVSQPEPPVSQSEISEPSAVPTDYSVSASDPSVLVSEAAVTVPEPPPEPESSITLTPVESAVVAEEHEVVPERPVTCMVSETPAMSAEPTVLASEPPVMSETAETFDSMRASGHVASEVSTSLLVPAVTTPVLAESILEPPAMAAPESSAMAVLESSAVTVLESSTVTVLESSTVTVLEPSVVTVPEPPVVAEPDYVTIPVPVVSALEPSVPVLEPAVSVLQPSMIVSEPSVSVQESTVTVSEPAVTVSEQTQVIPTEVAIESTPMILESSIMSSHVMKGINLSSGDQNLAPEIGMQEIALHSGEEPHAEEHLKGDFYESEHGINIDLNINNHLIAKEMEHNTVCAAGTSPVGEIGEEKILPTSETKQRTVLDTYPGVSEADAGETLSSTGPFALEPDATGTSKGIEFTTASTLSLVNKYDVDLSLTTQDTEHDMVISTSPSGGSEADIEGPLPAKDIHLDLPSNNNLVSKDTEEPLPVKESDQTLAALLSPKESSGGEKEVPPPPKETLPDSGFSANIEDINEADLVRPLLPKDMERLTSLRAGIEGPLLASDVGRDRSAASPVVSSMPERASESSSEEKDDYEIFVKVKDTHEKSKKNKNRDKGEKEKKRDSSLRSRSKRSKSSEHKSRKRTSESRSRARKRSSKSKSHRSQTRSRSRSRRRRRSSRSRSKSRGRRSVSKEKRKRSPKHRSKSRERKRKRSSSRDNRKTVRARSRTPSRRSRSHTPSRRRRSRSVGRRRSFSISPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRRRSRSVVRRRSFSISPVRLRRSRTPLRRRFSRSPIRRKRSRSSERGRSPKRLTDLDKAQLLEIAKANAAAMCAKAGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEF*

ENST00000381679.8 SON

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