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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003036 Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

Related Services

RefSeq Version NM_003036.3, 224465161
Length 5707 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), mRNA.
Product ski oncogene
Comment

Summary: This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_003027.1
CDS 73..2259
Misc Feature(1)349..648
Misc Feature(2)349..648
Misc Feature(3)727..1008
Misc Feature(4)1510..1512
Misc Feature(5)1777..>2013
Misc Feature(6)1858..2193
Misc Feature(7)1882..>2196
Exon (1)1..1041
Gene:SKI
Gene Synonym:SGS; SKV
Exon (2)1042..1167
Gene:SKI
Gene Synonym:SGS; SKV
Exon (3)1168..1283
Gene:SKI
Gene Synonym:SGS; SKV
Exon (4)1284..1546
Gene:SKI
Gene Synonym:SGS; SKV
Exon (5)1547..1839
Gene:SKI
Gene Synonym:SGS; SKV
Exon (6)1840..2070
Gene:SKI
Gene Synonym:SGS; SKV
Exon (7)2071..5707
Gene:SKI
Gene Synonym:SGS; SKV
Translation MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAV PAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKR LCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKT DAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSP SAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARL GRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLA GSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDS EAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEA ELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKE KLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLR AKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGS EGAAELEP
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Position Chain Variation Link
complement(18)-dbSNP:
complement(18)-g, cdbSNP:2945574
28+c, gdbSNP:9442618
166+c, gdbSNP:387907304
171+c, gdbSNP:200019352
172+a, g, tdbSNP:387907306
173+a, g, tdbSNP:387907305
175+c, tdbSNP:397514590
176+a, cdbSNP:397514589
257+c, gdbSNP:28384811
296+a, cdbSNP:374862468
319+c, tdbSNP:201590284
352..363+, tccgaccgctccdbSNP:398122914
353+c, gdbSNP:376575233
355..363+, gaccgctccdbSNP:398122889
360+c, tdbSNP:113737327
366+c, tdbSNP:115746142
384+a, tdbSNP:368195821
396+a, gdbSNP:201144990
419+a, gdbSNP:387907303
432+c, tdbSNP:375024753
450+c, tdbSNP:369090536
453+c, tdbSNP:371497152
468+a, cdbSNP:150306072
489+c, tdbSNP:144874401
510+c, tdbSNP:371061756
528+c, tdbSNP:149898447
561+c, tdbSNP:373291824
588+c, tdbSNP:182513685
634+a, gdbSNP:377092419
681+a, gdbSNP:41310345
712+a, gdbSNP:139179843
798+c, tdbSNP:139227600
805+a, cdbSNP:370180564
834+c, tdbSNP:56352201
853+g, tdbSNP:374916878
870+c, tdbSNP:149642284
871+c, tdbSNP:140178396
883+a, cdbSNP:201274840
911+a, gdbSNP:201251918
954+a, gdbSNP:370509811
1020+a, gdbSNP:368128582
1066+dbSNP:
1066+a, gdbSNP:374264201
1097+a, gdbSNP:377336741
1105+a, gdbSNP:150934009
1106+c, tdbSNP:201599402
1107+a, gdbSNP:373868271
1108+c, tdbSNP:376881638
1113+c, tdbSNP:140745811
1114+a, gdbSNP:370217718
1131+c, tdbSNP:375991331
1141+c, tdbSNP:370418830
1142+a, gdbSNP:200874294
1152+c, tdbSNP:200557598
1159+a, tdbSNP:375569215
1178+dbSNP:
1178+a, gdbSNP:147857890
1181+c, tdbSNP:138088528
1194+g, tdbSNP:373068351
1224+c, tdbSNP:200160702
1234+a, gdbSNP:376736872
1235+c, tdbSNP:75280988
1261+c, tdbSNP:371268096
1266+a, gdbSNP:374138016
1268+c, tdbSNP:141862996
1341+dbSNP:
1341+a, gdbSNP:375600617
1346+c, tdbSNP:199997665
1366+a, gdbSNP:368739670
1374+a, gdbSNP:111459205
1380+c, tdbSNP:139034124
1383+c, tdbSNP:140889128
1393+c, tdbSNP:201613746
1401+c, tdbSNP:150033567
1410+c, tdbSNP:148632347
1419+c, gdbSNP:202214883
1454+c, tdbSNP:141464453
1456+c, gdbSNP:199797772
1482+c, tdbSNP:150985728
1488+a, tdbSNP:367560810
1489+a, gdbSNP:371772366
1511+c, tdbSNP:367916348
1512+a, gdbSNP:185754530
1517+c, tdbSNP:372475723
1518+a, gdbSNP:114345135
1521+a, gdbSNP:375518242
1528+a, gdbSNP:200717031
1532+a, gdbSNP:373084170
1553+dbSNP:
1553+c, gdbSNP:12403174
1599+c, tdbSNP:111935632
1600+a, gdbSNP:61735580
1628+a, gdbSNP:376322470
1630+a, gdbSNP:368770641
1645+a, gdbSNP:141961299
1665+c, tdbSNP:144279718
1704+c, tdbSNP:373914574
1707+g, tdbSNP:147353707
1780+c, tdbSNP:377517039
1783+a, gdbSNP:190373826
1806+c, tdbSNP:117443908
1807+a, gdbSNP:370558210
1857+dbSNP:
1857+c, gdbSNP:199727876
1890+a, gdbSNP:377110260
1894+a, gdbSNP:149105394
1906+a, gdbSNP:35833638
1923+a, gdbSNP:146789646
1935+c, g, tdbSNP:200702159
1978+c, tdbSNP:143354709
1980+c, tdbSNP:182417640
1995+a, gdbSNP:199666240
2003+c, tdbSNP:374078433
2022+c, tdbSNP:113979182
2046+c, tdbSNP:201895384
complement(2134)-dbSNP:
complement(2134)-g, adbSNP:1062631
2255+c, tdbSNP:372950890
2292+a, tdbSNP:2230008
2298+a, gdbSNP:191800649
2399..2400+, gtdbSNP:3835420
2615+a, c, tdbSNP:72642140
2634+a, cdbSNP:184330809
2637+a, gdbSNP:188831690
2683+a, cdbSNP:369120676
complement(2684..2685)-, gdbSNP:34954223
2745+c, gdbSNP:373075362
2782+a, gdbSNP:116161617
2871+c, tdbSNP:193024082
2886+c, tdbSNP:185708310
2951+a, gdbSNP:74600869
complement(2964)-t, cdbSNP:139981381
3043+c, tdbSNP:371064577
3086+c, tdbSNP:372803032
3106+c, tdbSNP:189028750
3120+c, tdbSNP:72920922
3164+a, gdbSNP:115194060
3190..3193+, ctttdbSNP:372733030
3190..3191+, tdbSNP:373398657
3216+g, tdbSNP:180799523
3498+c, tdbSNP:183885298
3547+a, cdbSNP:374474967
3617+c, tdbSNP:188655097
3639+a, gdbSNP:3765931
3670+a, gdbSNP:148901982
3674+c, gdbSNP:181405262
3707+c, tdbSNP:142729543
3853..3854+, gdbSNP:369328388
3983+c, tdbSNP:146521575
4061+c, tdbSNP:2173049
4061+c, tdbSNP:386559676
4098..4099+, tdbSNP:113293239
4108+c, tdbSNP:140979905
4129+a, gdbSNP:79907870
complement(4141)-c, adbSNP:144783657
4196+a, gdbSNP:138562685
4225+g, tdbSNP:370695165
4226+a, cdbSNP:374101804
complement(4286)-g, cdbSNP:34085168
complement(4288)-c, adbSNP:35005443
complement(4311)-t, adbSNP:35471664
complement(4330)-t, gdbSNP:34066789
complement(4384..4385)-, gdbSNP:34975980
4398+c, g, tdbSNP:111973305
4438+a, gdbSNP:2843157
complement(4471..4472)-, cdbSNP:35771060
4509+c, gdbSNP:78207415
4520+a, tdbSNP:113784820
4522+a, gdbSNP:185935070
4544+c, tdbSNP:373512735
4552+c, tdbSNP:374374191
4561+c, tdbSNP:117433242
4627+c, tdbSNP:191880690
4653+c, tdbSNP:376497744
4656+a, gdbSNP:112501347
4671+c, tdbSNP:373260464
4688+a, cdbSNP:55795457
4735+c, tdbSNP:140239034
4826..4828+, aagdbSNP:376886369
complement(4966)-, adbSNP:34233545
complement(5123..5124)-, gdbSNP:36195466
5159+c, gdbSNP:7527543
5160+c, tdbSNP:181984476
5388+a, gdbSNP:183394288
5399+c, tdbSNP:112043297
5405+c, tdbSNP:367755915
5431..5432+, t, ttdbSNP:112413214
5441..5442+, a, aadbSNP:35148324
5521+c, tdbSNP:187470528
5525..5526+, adbSNP:140141421
5576+c, tdbSNP:137933830
Gene SymbolSKI
Gene SynonymSGS; SKV
Chromosome1
Locus Map1p36.33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003036 Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), mRNA. On-demand TBD TBD
XM_005244775 PREDICTED: Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), transcript variant X1, mRNA. On-demand TBD TBD
XM_005244776 PREDICTED: Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), transcript variant X2, mRNA. On-demand $699.00 18
Title 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy .
Author Zhu X, Zhang Y, Wang J, Yang JF, Yang YF and Tan ZP.
Journal Gene 528 (2), 352-355 (2013)
Title Ski protein levels increase during in vitro progression of HPV16-immortalized human keratinocytes and in cervical cancer .
Author Chen Y, Pirisi L and Creek KE.
Journal Virology 444 (1-2), 100-108 (2013)
Title Expression of Ski can act as a negative feedback mechanism on retinoic acid signaling .
Author Melling MA, Friendship CR, Shepherd TG and Drysdale TA.
Journal Dev. Dyn. 242 (6), 604-613 (2013)
Title Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers .
Author Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A, Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V, Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I, Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
Journal PLoS Genet. 9 (1), E1003225 (2013)
Title In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome .
Author Carmignac V, Thevenon J, Ades L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviere JB, Boileau C, De Paepe A and Faivre L.
Journal Am. J. Hum. Genet. 91 (5), 950-957 (2012)
Title SnoI, a novel alternatively spliced isoform of the ski protooncogene homolog, sno .
Author Pearson-White S.
Journal Nucleic Acids Res. 21 (19), 4632-4638 (1993)
Title Complex formation between proteins encoded by the ski gene family .
Author Nagase T, Nomura N and Ishii S.
Journal J. Biol. Chem. 268 (18), 13710-13716 (1993)
Title Shprintzen-Goldberg Syndrome .
Author Greally,M.T.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Isolation of human cDNA clones of ski and the ski-related gene, sno .
Author Nomura N, Sasamoto S, Ishii S, Date T, Matsui M and Ishizaki R.
Journal Nucleic Acids Res. 17 (14), 5489-5500 (1989)
Title The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22----q24 .
Author Chaganti,R.S., Balazs,I., Jhanwar,S.C., Murty,V.V., Koduru,P.R., Grzeschik,K.H. and Stavnezer,E.
Journal Cytogenet. Cell Genet. 43 (3-4), 181-186 (1986)

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