ENST00000300278.8 SON
Information
- Transcript ID
- ENST00000300278.8
- Genome
- hg19
- Position
- chr21:34,915,370-34,932,973
- Strand
- +
- CDS length
- 6,912
- Amino acid length
- 2,304
- Gene symbol
- SON
- Gene type
- protein-coding
- Gene description
- SON DNA and RNA binding protein
- Gene Entrez Gene ID
- 6651
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 |
---|---|---|
1 | 34,915,370 | 34,915,475 |
2 | 34,918,519 | 34,918,685 |
3 | 34,921,782 | 34,927,697 |
4 | 34,929,462 | 34,929,622 |
5 | 34,931,536 | 34,931,682 |
6 | 34,931,893 | 34,932,081 |
7 | 34,932,183 | 34,932,973 |
CDS
Exon number | Type | Start | Stop |
---|---|---|---|
1 | CDS | 34,915,399 | 34,915,475 |
2 | CDS | 34,918,519 | 34,918,685 |
3 | CDS | 34,921,782 | 34,927,697 |
4 | CDS | 34,929,462 | 34,929,622 |
5 | CDS | 34,931,536 | 34,931,682 |
6 | CDS | 34,931,893 | 34,932,081 |
7 | CDS | 34,932,183 | 34,932,437 |
Other genome
Genome | Chromosome | Start | End | Links |
---|---|---|---|---|
hg38 | chr21 | 33,543,064 | 33,560,667 | Link |
CDS sequence
ATGGCGACCAACATCGAGCAGATTTTTAGGTCTTTCGTGGTCAGTAAATTCCGGGAAATTCAACAGGAGCTTTCCAGTGGAAGGAATGAAGGCCAGCTGAATGGTGAAACAAATACACCCATTGAAGGAAACCAGGCGGGTGATGCAGCTGCCTCTGCCAGGAGTCTACCAAATGAAGAAATAGTGCAGAAGATAGAGGAAGTACTTTCTGGGGTCTTAGATACAGAACTACGATATAAGCCAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAGCATTTGGCCCATCTGAGACCAATGAATCCCCTGCAGTTGTGCTAGAACCTCCTGTAGTATCAATGGAGGTATCAGAGCCACACATCTTAGAAACTCTGAAGCCAGCTACAAAAACTGCAGAACTGTCAGTTGTATCTACATCAGTAATCTCAGAGCAGTCAGAGCAGTCTGTGGCAGTAATGCCAGAACCATCCATGACAAAGATTCTGGATTCCTTTGCAGCAGCACCAGTGCCTACTACAACACTGGTGTTGAAGTCATCTGAGCCAGTTGTAACAATGTCAGTGGAGTATCAGATGAAGTCTGTGCTGAAATCTGTGGAGAGCACATCTCCAGAGCCATCAAAGATCATGTTGGTAGAGCCCCCAGTAGCAAAAGTGTTAGAGCCTTCAGAAACCCTTGTGGTATCATCAGAGACACCTACTGAGGTGTACCCTGAGCCAAGCACATCAACAACAATGGATTTTCCAGAGTCATCTGCAATTGAAGCGCTAAGATTGCCAGAGCAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCCAGGGCTTCCAGCACCATCCATGGGGTTGGAGCCACCACAGGAGGTACCAGAGCCACCTGTGATGGCACAGGAGTTGCCAGGGCTGCCTTTGGTGACAGCAGCAGTAGAGTTGCCAGAGCAGCCTGCGGTAACAGTAGCAATGGAGTTGACCGAACAACCTGTGACGACGACAGAGTTGGAGCAGCCTGTGGGGATGACAACGGTGGAACATCCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTGCTGGGGCAGCCTGAGGCAACGATGGTGCTGGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGCTCTATGATGTCTTATGAGCGGTCTATGATGTCCCCTATGGCTGAACGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCCCCTATGGCTGAGCGCTCTATGATGTCAGCTTATGAACGCTCCATGATGTCAGCTTATGAACGCTCCATGATGTCCCCAATGGCTGATCGATCTATGATGTCCATGGGTGCTGACCGGTCTATGATGTCGTCATACTCTGCTGCTGACCGGTCTATGATGTCATCGTACTCTGCAGCTGACCGATCTATGATGTCATCTTATACTGCTGATCGTTCAATGATGTCTATGGCTGCTGATTCTTACACCGATTCTTACACTGACACATATACAGAGGCATATATGGTGCCACCTTTGCCTCCTGAAGAGCCCCCAACAATGCCACCGTTGCCACCTGAGGAGCCACCAATGACACCACCATTGCCTCCTGAGGAACCACCAGAGGGTCCAGCATTGCCCACTGAGCAGTCAGCATTAACAGCTGAAAATACTTGGCCTACAGAGGTGCCATCATCACCATCTGAAGAGTCTGTATCGCAGCCTGAGCCTCCTGTGAGTCAAAGTGAGATTTCGGAGCCTTCAGCAGTGCCTACTGATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGAGTCTTCGACTGTAACTGTCCTGGAGCCTTCGGTTGTGACTGTCCCGGAGCCTCCTGTTGTGGCTGAGCCAGACTATGTTACCATTCCTGTGCCAGTTGTTTCTGCGCTGGAGCCTTCTGTGCCTGTTCTGGAACCAGCGGTGTCAGTCCTTCAACCTTCTATGATTGTTTCAGAACCATCTGTTTCTGTCCAGGAATCGACTGTGACAGTTTCAGAGCCTGCTGTCACAGTCTCAGAGCAGACTCAAGTAATACCAACTGAGGTGGCTATAGAGTCCACACCAATGATACTGGAATCTAGTATCATGTCATCACATGTTATGAAAGGAATTAATCTATCCTCTGGTGATCAAAATCTTGCTCCAGAGATTGGCATGCAGGAGATTGCATTGCATTCAGGTGAAGAACCACATGCTGAGGAACACCTGAAAGGTGACTTTTACGAAAGTGAACATGGTATAAATATAGACCTTAATATAAATAATCATTTAATTGCTAAAGAGATGGAACATAATACAGTGTGTGCTGCTGGTACTAGTCCTGTTGGGGAAATTGGTGAAGAGAAAATTTTGCCCACCAGTGAGACTAAACAGCGCACAGTATTGGATACCTACCCTGGTGTTAGTGAAGCTGATGCAGGAGAAACTCTATCTTCTACTGGTCCTTTTGCTCTGGAACCTGATGCAACAGGAACTAGTAAGGGTATTGAATTTACCACAGCATCTACTCTCAGTTTAGTTAATAAATATGATGTTGATTTATCTTTAACTACTCAAGATACTGAACATGACATGGTAATTTCCACCAGTCCTAGTGGTGGTAGTGAAGCTGACATTGAAGGGCCTTTGCCTGCTAAAGATATTCATCTTGATTTACCATCTAATAATAACCTTGTTAGTAAGGATACAGAAGAACCATTACCTGTAAAAGAGAGTGACCAGACATTAGCAGCTCTGCTCAGCCCTAAAGAAAGTAGTGGAGGAGAAAAAGAAGTACCTCCCCCTCCTAAAGAGACACTGCCTGATTCAGGATTTTCTGCCAATATTGAGGATATTAATGAAGCAGATTTAGTGAGACCGTTACTTCCTAAGGACATGGAACGTCTTACAAGCCTTAGAGCTGGCATTGAAGGACCTTTACTTGCAAGTGATGTTGGACGTGACAGATCTGCTGCCAGCCCGGTTGTAAGTAGTATGCCAGAAAGAGCTTCAGAGTCTTCTTCAGAGGAAAAAGATGATTATGAAATTTTTGTAAAAGTTAAGGACACTCACGAAAAAAGCAAGAAAAATAAGAACCGTGATAAGGGGGAGAAAGAGAAGAAAAGAGACTCTTCATTAAGATCTCGAAGTAAGCGTTCCAAATCTTCTGAACACAAATCACGCAAGCGTACCAGTGAATCTCGTTCTAGGGCAAGAAAGAGATCATCTAAGTCCAAGTCTCATCGCTCTCAGACACGTTCACGGTCACGTTCAAGACGCAGGAGGAGAAGCAGCAGATCAAGATCAAAGTCTAGAGGAAGAAGATCTGTATCAAAAGAGAAGCGCAAAAGATCTCCAAAGCACAGATCCAAGTCTAGGGAAAGAAAAAGAAAAAGATCAAGCTCCAGGGATAACCGAAAGACAGTTAGAGCTCGAAGTCGAACCCCAAGTCGTCGGAGTCGGAGTCATACTCCAAGTCGTCGACGAAGGTCTAGATCTGTGGGTAGAAGAAGGAGCTTTAGCATTTCCCCAAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCCAGCCGCCGGAGCCGCACCCCTAGCCGTCGGAGCCGCACCCCAAGCCGCCGGAGAAGATCAAGGTCTGTGGTAAGAAGACGAAGCTTCAGTATCTCACCAGTCAGATTAAGGCGATCAAGAACACCCTTAAGAAGAAGGTTTAGCAGATCTCCCATCCGTCGTAAAAGATCCAGGTCTTCTGAACGAGGCAGATCACCCAAACGTCTGACAGATTTGGATAAGGCTCAATTACTTGAAATAGCCAAAGCTAATGCAGCTGCCATGTGTGCTAAGGCTGGTGTCCCTTTACCACCAAACCTAAAGCCTGCACCTCCACCTACTATAGAAGAGAAAGTTGCTAAAAAGTCAGGAGGAGCTACTATAGAAGAACTAACTGAGAAATGTAAACAGATCGCACAGAGTAAAGAAGATGATGATGTAATAGTGAATAAACCTCATGTTTCGGATGAAGAGGAAGAAGAACCTCCTTTTTATCATCATCCCTTTAAACTCAGTGAACCCAAACCTATTTTTTTCAATCTGAATATTGCTGCAGCAAAACCAACTCCACCAAAAAGCCAGGTAACATTAACAAAAGAATTCCCTGTATCATCTGGATCTCAACATCGGAAAAAAGAAGCGGATAGTGTTTATGGAGAATGGGTTCCTGTGGAGAAAAATGGTGAAGAAAACAAAGATGATGATAATGTTTTCAGCAGCAATTTGCCCTCAGAGGGCCGGGTTAAACGGCAGGGCCGGGTTAGACGACAGATGAAACAACCCGCAGCTTCTCATTTGACAGTAACTCGATGCAATTCACTTTGTGGAACCAAGCCACAAAGTGAAAAGCATCGAATTGCAGAGAACAGTGTTATCACATCCCTACCCAACATTGGGCCCTCCCTGCACTTGTGGGAAGGTAGTCCAAGGTACAACTATTTAGCTTCCCGATTTGCTTCAAGGCTCTATAGCTCTAGATTTTGGTGGTAG
Amino sequence
MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDLKEGSRKSRCVSVQTDPTDEIPTKKSKKHKKHKNKKKKKKKEKEKKYKRQPEESESKTKSHDDGNIDLESDSFLKFDSEPSAVALELPTRAFGPSETNESPAVVLEPPVVSMEVSEPHILETLKPATKTAELSVVSTSVISEQSEQSVAVMPEPSMTKILDSFAAAPVPTTTLVLKSSEPVVTMSVEYQMKSVLKSVESTSPEPSKIMLVEPPVAKVLEPSETLVVSSETPTEVYPEPSTSTTMDFPESSAIEALRLPEQPVDVPSEIADSSMTRPQELPELPKTTALELQESSVASAMELPGPPATSMPELQGPPVTPVLELPGPSATPVPELPGPLSTPVPELPGPPATAVPELPGPSVTPVPQLSQELPGLPAPSMGLEPPQEVPEPPVMAQELPGLPLVTAAVELPEQPAVTVAMELTEQPVTTTELEQPVGMTTVEHPGHPEVTTATGLLGQPEATMVLELPGQPVATTALELPGQPSVTGVPELPGLPSATRALELSGQPVATGALELPGPLMAAGALEFSGQSGAAGALELLGQPLATGVLELPGQPGAPELPGQPVATVALEISVQSVVTTSELSTMTVSQSLEVPSTTALESYNTVAQELPTTLVGETSVTVGVDPLMAPESHILASNTMETHILASNTMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSTMDSQMLATSTMDSQMLATSSMDSQMLASGTMDSQMLASGTMDAQMLASGTMDAQMLASSTQDSAMLGSKSPDPYRLAQDPYRLAQDPYRLGHDPYRLGHDAYRLGQDPYRLGHDPYRLTPDPYRMSPRPYRIAPRSYRIAPRPYRLAPRPLMLASRRSMMMSYAAERSMMSSYERSMMSYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMADRSMMSMGADRSMMSSYSAADRSMMSSYSAADRSMMSSYTADRSMMSMAADSYTDSYTDTYTEAYMVPPLPPEEPPTMPPLPPEEPPMTPPLPPEEPPEGPALPTEQSALTAENTWPTEVPSSPSEESVSQPEPPVSQSEISEPSAVPTDYSVSASDPSVLVSEAAVTVPEPPPEPESSITLTPVESAVVAEEHEVVPERPVTCMVSETPAMSAEPTVLASEPPVMSETAETFDSMRASGHVASEVSTSLLVPAVTTPVLAESILEPPAMAAPESSAMAVLESSAVTVLESSTVTVLESSTVTVLEPSVVTVPEPPVVAEPDYVTIPVPVVSALEPSVPVLEPAVSVLQPSMIVSEPSVSVQESTVTVSEPAVTVSEQTQVIPTEVAIESTPMILESSIMSSHVMKGINLSSGDQNLAPEIGMQEIALHSGEEPHAEEHLKGDFYESEHGINIDLNINNHLIAKEMEHNTVCAAGTSPVGEIGEEKILPTSETKQRTVLDTYPGVSEADAGETLSSTGPFALEPDATGTSKGIEFTTASTLSLVNKYDVDLSLTTQDTEHDMVISTSPSGGSEADIEGPLPAKDIHLDLPSNNNLVSKDTEEPLPVKESDQTLAALLSPKESSGGEKEVPPPPKETLPDSGFSANIEDINEADLVRPLLPKDMERLTSLRAGIEGPLLASDVGRDRSAASPVVSSMPERASESSSEEKDDYEIFVKVKDTHEKSKKNKNRDKGEKEKKRDSSLRSRSKRSKSSEHKSRKRTSESRSRARKRSSKSKSHRSQTRSRSRSRRRRRSSRSRSKSRGRRSVSKEKRKRSPKHRSKSRERKRKRSSSRDNRKTVRARSRTPSRRSRSHTPSRRRRSRSVGRRRSFSISPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRSRTPSRRRRSRSVVRRRSFSISPVRLRRSRTPLRRRFSRSPIRRKRSRSSERGRSPKRLTDLDKAQLLEIAKANAAAMCAKAGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLTKEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEGRVKRQGRVRRQMKQPAASHLTVTRCNSLCGTKPQSEKHRIAENSVITSLPNIGPSLHLWEGSPRYNYLASRFASRLYSSRFWW*