располагается на 12 хромосоме (локус 12q21.32)
с него считывается белок центросомы (CEntrosomal Protein) массой 290 кДа
этот ген имеет синонимы:
3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
BBS - синдром Барде-Бидля, LCA - врожденный амавроз Лебера
Мутации в гене CEP290 приводят к развитию амавроза Лебера и синдрому Барде-Бидля
Центросомный белок 290kDa.Этот ген кодирует белок с 13 предполагаемыми биспиральными доменами, регионом, гомологичным SMC АТФазам сегрегации хромосом, шестью KID мотивовами, тремя гомологичными тропомиозину доменами и сайтом А связывания АТФ/ГТФ. Белок локализован в центросоме и ресничках и имеет сайты N-гликозилирования, тирозинсульфатации, фосфорилирования, N-миристоилирования и амидирования. Мутации в этом гене ассоциированы с синдромом Жубера и нефронофтизом, присутствие антител против этого белка связано с несколькими формами рака.
join(1..317,883..1011,1184..1261,2653..2722,3026..3072, 5431..5574,10999..11052,11652..11672,11797..11949, 12341..12523,13182..13271,15779..15901,16848..16971, 21051..21220,21941..22103,23474..23574,23647..23734, 25072..25184,27035..27119,27655..27797,30359..30523, 30866..31015,33036..33151,35119..35221,35312..35542, 39206..39379,45218..45329,48242..48447,49385..49536, 51378..51489,52730..53185,54273..54437,55719..55826, 56044..56178,57365..57631,58263..58370,58987..59186, 61822..62035,62988..63125,64299..64520,64873..64995, 70291..70436,70768..70923,73572..73695,78102..78236, 79439..79525,81223..81387,82197..82319,83197..83369, 86500..86641,87804..87877,88471..88565,91784..91863, 92803..93204)
Экзоны
1. ATTTGAAGTCCTCGTTCCACGCCTTCTCATCATCCTGAACACCGAGCTCTGGGACTCCGG CGGAGAATCTAAACGTAAAGCATCACCCACGGTCGTGAACTGTAGGCTCTCCTGGCATCC GGGATCTTATTCTGGCCTT GGCGGAGTTGGGGATGGTGTCGCCTAGCAGCCGCTGCCGCT TTGGCTTGCTCGGGACCATTTGGCTGGACCCAGAGTCCGCGTGGAACCGCGATAGGGATC TGTCAG GGCCCGCGGCCGGGTCCAGCTTGGTGGTTGCGGTAGTGAGAGGCCTCCGCTGGT TGCCAGGCTTGGTCTAG
2.
AGGTGGAGCACAGTGAAA GAATTCAAGATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGACCCAGATGAC CTGCCCCGTCAAGAAGAACTGGCAGATAATTTATTGATTTCCTTATCCAAG
3.
GTGGAAGTAAATGAGCT AAAAAGTGAAAAGCAAGAAAAT GTGATACACCTTTTCAGAATTACTCAGTCACTAATGAA G (2 и 3 секвенировать вместе)
4.
ATGAAAGCTCAAGAAGTGGAGCTGGCTTTGGAAGAAGTAGAAAAAGCT GGAGAAGAACAAGCAAAATTTG
5.
AAAATCAATTAAAAACTAAAGTAATGAAACTGGAA AATGAACTGGAG (4 и 5 секвенировать вместе)
6.
ATGGCTCAGCAGTCTGCAGGTGGACGAGAT ACTCGGTTTTTACGTAATGAAATTTGCCAACTTGAAAAACAATTAGAACAAAAAGATAGA GAATTGGAGGACATGGAAAAGGAGTTGGAGAAAGAGAAGAAAGTTAATGAGCAA GTAAAG CACTTTTTTTTTCCATGAATCTTCACTGTTCAAGTTACCTGGCTTTTTATTATTATTGGT AACAATATCAATTTTTATATTGTATGTTATATTTGAAAAATGATGTACACTTATCTCTAA GGTTTTATATCACTGTTCATTTTGTCATCACCAATTTTAAAATATAATGGTACTTCTAGT GAATATGACTTGAAGATTAATTCTTTATATTTGGAAGTACATTTTTCTCAGGACATCAAA CTTGTTACCTAAAATTAATGCTTTTGTCTGGAAGATTGGTATCAAGTAACTAATAGATTT TCATAAAGAAGTGATCTTTCTAGTGCCATAGTTTATTTTGGGTAAAAGTTATATTTGTTC ATTTCAATGTATTTATATGATTAGTAGATTCGCAAATGAATCTTTCGATATATTCAATAA TGGTTAATTAAATATCTTGTTTTTGGTTGTACCTTATTTTATGTGAGATATATATATATA TGTATAGTTTTTGAAAAGTTGTGTTCATGTCAGCAGTTTATAAATCACATATTTAAAATA ACATTTTTAATGCATAGTTTTTATTACCTCGTTATTCCTTGTTATAAACTAATAATTCTT GCAGTGTTCACTTGAATTTAGTTTTAGGAAAAAAGTTTTTTGCAGATCAACTTGTATTTC CTGGAAGAAAATTTCCTATTTTACCTCAGCTTCCTATTTAATGTATTATTTATTTATTTA CTTAACATTTATTTGTTTTTTATTTCACCTGAACTGTTAGTAAACTTAGTAAAATTTGGT GCCTACATGTGGTAACTGTCCTGTCCCTTATACTCAGAAACGTTTTCCACCTTTGTGTCC TTTAGGTCATTGTTGTGTTATATTCCATTTATTTTATTT (1020 п.н.)
7.
TTGGCTCTTCGAAATGAGGAGGCAGAAAATGAAAACAGCAAA TTAAGAAGAGAG
8.
AACAAACGTCTAAAGAAAAAG
9.
AATGAACAACTTTGTCAGGATATT ATTGAC TACCAGAAACAAATAGATTCACAGAAAGAAACACTTTTATCAAGAAGAGGGGAA GACAGTGACTACCGATCACAGTTGTCTAAAAAAAACTATGAGCTTATCCAATATCTTGAT GAAATTCAG (8 и 9 секвенировать вместе)
10.
ACTTTAACAGAAGCTAATGA GAAAATTGAAGTTCAGAATCAAGAAATGAGAAAAAATTTAGAAGAGTCTGTACAGGAAAT GGAGAAGATGACTGATGAATATAATAGAATGAAAGCTATTGTGCATCAGACAGATAATGT AATAGATCAGTTAAAAAAAGAAAAC GATCATTATCAACTTCAA
11 GTGCAGGAGCTTACAGATC TTCTGAAATCAAAAAATGAAGAAGATGATCCAATTATGGTAGCTGTCAATGCAAAAGTAG AAGAATGGAAG
12.
CT AATTTTGTCTTCTAAAGATGATGAAATTATTGAGTATCAGCAAATGTTACATAACCTAAG GGAGAAACTTAAGAATGCTCAGCTTGATGCTGATAAAAGTAATGTTATGGCTCTACAGCA G
13.
GGTATACAGGAAC GAGACAGTCAAATTAAGATGCTCACCGAACAAGTAGAACAATATACAAAAGAAATGGAAA AGAATACTTGTATTATTGAAGATTTGAAAAATGAGCTCCAAAGAAACAAAG
14.
GTGCTTCAAC CCTTTCTCAACAGACTCATATGAAAATTCAGTCAACGTTAGACATTTTAAAAGAGAAAAC TAAAGAGGCTGAGAGAACAGCTGAACTGGCTGAGGCTGATGCTAGGGAAAAGGATAAAGA ATTAGTTGAGGCTCTGAAGAGGTTAAAAGATTATGAATCG
15.
GGAGTATATGGTTTAGAAGA TGCTGTCGTTGAAATAAAGAATTGTAAAAACCAAATTAAAATAAGAGATCGAGAGATTGA AATATTAACAAAGGAAATCAATAAACTTGAATTGAAGATCAGTGATTTCCTTGATGAAAA TGAGGCACTTAGAGAGCGTGTGG
16.
GCCTTGAACCAAAGACAATGATTGATTTAACTGAATTTAGAAATAGC AAACACTTAAAACAGCAGCAGTACAGAGCTGAAAACCAGATTCTTTTGAAAGAG GCAAGT
17.
ATTGAAAG TCTAGAGGAAGAACGACTTGATCTGAAAAAAAAAATTCGTCAAATG GCTCAAGAAAGAGGAAAAAGAAGTGCAACTTCAG
18.
GATTAACCA CTGAGGACCTGAACCTAACTGAAAACATTTCTCAAGGAGATAGAATAAGTGAAAGAAAAT TGGATTTATTGAGCCTCAAAAATATGAGTGAAGCACAATCAAAG
19.
AATGAAATCATAGCACAGGAATTCTTGATCAAAGAAGCAGAGTGTAGAAATGCA GATATAGAGCTTGAACATCACAGAAGCCAGGCAGAACAG
20.
AATGAATTTCTTTCAAGAGAACTAAT TGAAAAAGAAAGAGATTTAGAAAGGAGTAGGACAGTGATAGCCAAATTTCAGAATAAAT
21.
TAAAAG AATTAGTTGAAGAAAATAAGCAACTTGAAGAAGGTATGAAAGAAATATTGCAAGCAATTA AGGAAATGCAGAAAGATCCTGATGTTAAAGGAGGAGAAACATCTCTAATTATCCCTAGCC TTGAAAGACTAGTTAAT
22.
GC TATAGAATCAAAGAATGCAGAAGGAATCTTTGATGCGAGTCTGCATTTGAAAGCCCAAGT TGATCAGCTTACCGGAAGAAATGAAGAATTAAGACAGGAGCTCAGGGAATCTCGGAAAGA GGCTATAAATTATTCACAGCAGTTGGCAAAAGCTAATTTAAAG
23.
ATAGACCATCTTGAAAAAGAAACTAGTCTTTTACG ACAATCAGAAGGATCAAATGTTGTTTTTAAAGGAATTGACTTACCTGATGGGATAGCACC ATCTAGTGCCAGTATCATTAATTCTCAGAATGAATATTTAATACATTTGTTACAG G TATT GAAAA
24.
GAACTAGAAAATAAAGAAAAAAAGT TAAAGAATTTAGAAGATTCTCTTGAAGATTACAACAGAAAATTTGCTGTAATTCGTCATC AACAAAGTTTGTTGTATAAAGAATACCTAAG
25.
TGAAAAGGAGACCTGGAAAACAGAATCTAAAACAATAAAAGA GGAAAAGAGAAAACTTGAGGATCAAGTCCAACAAGATGCTATAAAAGTAAAAGAATATAA T
26.
AATTTGCTCAATGCTCTTCAGATGGATTC GGATGAAATGAAAAAAATACTTGCAGAAAATAGTAGGAAAATTACTGTTTTGCAAGTGAA TGAAAAATCACTTATAAGGCAATATACAACCTTAGTAGAATTGGAGCGACAACTTAGAAA AGAAAATGAGAAGCAAAAGAATGAATTGTTGTCAATGGAGGCTGAAGTTTGTGAAAAAAT TGGGTGTTTGCAAAGATTTAAG (25 и 26 секвенировать вместе)
27.
AAGCTTAATACT GAGCATCAAGAAATTCTTTAATAAATATAAGTGATATTTATTCAGACATGTAATAAGGAA ATGTTCATGTCTTATTTTTGTGTTAGATTTTTTTAGAATCTACTTTTGTTAGAGTTTTAT AAATACAGTTAGTGTTTGAGATAGAAAGAGAAAAGAATTAGTTTTCTTCCTCTTCTACCT GCTCATGAACTTGATTTTTTTCTCCCAACAATTGAAGAGCCAAGAAAAAGGGAGATTCTT AAGAGATGGGAAATAGAATCTCATCTACCCCTGTTTCCCCCAGAACAGTGAAACTGAATC TTAAGGGTAAGATAGAATAGTGTGTACTTAACTTAGATGGAGAAGAAAGGCTGCCAAAAT GAGATCTGAAGCGCTATTACAAATATTTCCATCGTTACTGTACTTCAGAATGAATTACAA CCGTAAGTTTTTTTACTTCCTCATTCATAAATTTGATTATTCCTTATACCACTTCTCAGC TTTCATCATTCTTTATTGTACTTTTCTATGTAATGTTTGCCTATTATACAGCAACTTAAG AGAACTGTAAGTTTGGACATTTCATTTTGGTGTTGATAATAGAATATCTTTGAATAGTTC TATAGTTGATGAGTAGAACCATGAACCAAGTAACTTAAAGTCCTTGATGTTATTTATTAC AGAGAACTATAATAGAAGCTCTCCCGCTAATGTTTCCATCATGTGTACAAAAAGTTTTCT TGTTATTAAAGCTAGTCCGTTTAACTTACAATAAGCATAAATAGCTAAGCTGTGAAAGTT ACCTGTGATAATGCTAATTTTCCCATTTATTAAAAGGCAAGTTGTTTTCCGATCATAAGA AATTTAGAAAAGCCATCCAAAGATAAATTCCGAGTGATATATTCCTGCTGTTTGTTATGT TTTCTCAAATTAATTGAGTTTTATTTTACAATGACAGGAGTTATTAAAGTATTTTATTTT TATTATGATTAAGATTTTCAAAGTAACATTTCTTATATGAAAGAAATTATGTTAATGCAT GTTTTTCTTACATGGGAAATCATATATTTTAAAAATGATTTTAAAATTCGTTTTACTTTA AGTTGTATTATCTTTCTCAAAAGTGGCTAGTGCTTGACCAGAAAAAAAGACACCAGCATA ACTCAGTGTATCTTTATTTACATAG GAAATGGCCATTTTCAAGATTGCAGCTCTCCAAAA AGTTGTAGATAATAGTGTTTCTTTGTCTGAACTAGAACTGGCTAATAAACAGTACAATGA ACTGACTGCTAAGTACAGGGACATCTTGCAAAAAGATAATATGCTTGTTCAAAGAACAAG TAACTTGGAACACCTGGAG (1351 п.н.)
28.
TGTGAAAACATCTCCTTAAAAGA ACAAGTGGAGTCTATAAATAAAGAACTGGAGATTACCAAGGAAAAACTTCACACTATTGA ACAAGCCTGGGAACAGGAAACTAAATTAG
29.
GTAATGAATCTAGCATGGATAAGGCAAAGAAATCAATAACCAACAGTGACATTGTTTCC ATTTCAAAAAAAATAACTATGCTGGAAATGAAGGAATTAAATGAAAGGCAGCGGGCTGAA CATTGTCAAAAAATGTATGAACACTTACGGACTTCGTTAAAGCAAATGGAGGAACGTAAT TTTGAATTGGAAACCAAATTTGCTGAG
30.
CTTACCAAAATCAATTTGGATGCACAGAAGGTGGAACAGATGTTAAGAGATGAATT AGCTGATAGTGTGAGCAAGGCAGTAAGTGATGCTGATAGGCAACGGATTCTAGAATTAGA GAAGAATGAAATGGAACTAAAAGTTGAAGTGTCAAA
31.
ACTGAGAGAGATTTCTGATATTGCCAGAAGACAAGTTGAAATT TTGAATGCACAACAACAATCTAGGGACAAGGAAGTAGAGTCCCTCAGAATGCAACTGCTA GACTATCAG
32.
GCACAGTCTGA TGAAAAGTCGCTCATTGCCAAGTTGCACCAACATAATGTCTCTCTTCAACTGAGTGAGGC TACTGCTCTTGGTAAGTTGGAGTCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAA CTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCTCGTTTGGA GGGAAGAAACAGAGCAAAACATCTGCGCCAAACAATTCAGTCTCTACGACGACAGTTTAG TGGAGCTTTACCCTTGGCACAACAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAA TGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGAAATATGGA GAACAAAACATTGGAGATGGAATTAAAATTAAAGGGCCTGGAAGAGTTAATAAGCACTTT AAAGGATACCAAAGGAGCCCAAAAG
33.
GTAATCAACTGGCATATGAAAATAGAAG AACTTCGTCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATAA AATATTTGAATAACATAATTTCTGAATATGAACGTACAATCAGCAGTCTTGAAGAAGAAA TTGTGCAACAGAACAAG
34.
TTTCATGAAGAAAGACAAATGG CCTGGGATCAAAGAGAAGTTGACCTGGAACGCCAACTAGACATTTTTGACCGTCAGCAAA ATGAAATACTAAATGCGGCACAAAAG
35.
TTTGAAGAAGCTACAGGATCAATCCCTGACCCTAGTTTGCCCCTTCCAAATCAACTT GAGATCGCTCTAAGGAAAATTAAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACT TGCAAATCACTAGAAGAG (34 и 35 секвенировать вместе)
36.
AAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAG AGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCT CATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGC TCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAA GTATCAACGTCTTCTAGAAAAAGCCAGAGAG
37.
GAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGAT TAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGG
38.
GATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGT CTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTC AAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTA AAAGAATTTGAAAATATCAAATTACA
39.
GCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAA AGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTT AAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAG AAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAA
40.
GCACTTAGTCGGG CACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAA CTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGC TAAAG
41.
ACACAAGTTGAAGATTTAAATG AAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAA CTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAA TACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAA GACTAACCAGTGGATTACAG
42.
GGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAA AGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAA CCTATGAAAGAAAAG
43.
AATGCTAAAGAAGAATTAATTAGGTGGGAA GAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAG GGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAA
44.
AGCCGATAAAGAGAAACTTACTTTGCAGAGGAA ACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGA AAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATAT GAG (43 и 44 секвенировать вместе)
45.
GGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTA CAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACA TATTCTAAGCCTTCA
46.
ATTTCAGGAATAGAGTCAG ATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAA ATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAG
47.
AA TCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCA GCGGAAACTTGGCCATGTTAGAGGG
48.
TCTGGTAGAAGTGGAAAG ACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAG AGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAAT ATTGAGCAGGAAAATGAAAAATTGAAG
49.
GCTG AATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGA CCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAA
50.
GAAACTGATGCTGCAGAGAAATTA CGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAG ACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGT AAGAGCTGGAAATCCATTGTGGTTACAAG
51.
AATGTATGAAACCAAGTTAAA AGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGT AAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA G
52.
ATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGA CAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAG
53.
ATTAGCTAATCATCAGCTGGATAAAGAGAA AGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCAT ACCTG
54.
ATGCTGATCAACTAAAG GAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTG AAG
55.
GAGGAAATAAAGAAGCTG AAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTAT AATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCA GAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTT GAAGATGAA GAAGAAAGTCCTGTTAATTTCCCCATTTACTAA AGGTCACCTATAAACTTTGTTTCATTT AACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTA GTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAATAAAA TTATATGAAATTTTCAA CTT
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