(used for variant description)
(last modified January 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006914.3 in the RORB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering RORB transcript NM_006914.3.
(upstream sequence)
. . . . g.5041
tctctcccctctctttctctctcgctgctcccttcctccct c.-601
. . . . . . g.5101
gtaactgaacagtgaaaattcacattgtggatccgctaacaggcacagatgtcatgtgaa c.-541
. . . . . . g.5161
aacgcacatgctctgccatccacaccgcctttctttcttttctttctgtttccttttttc c.-481
. . . . . . g.5221
ccccttgttccttctccctcttctttgtaactaacaaaaccaccaccaactcctcctcct c.-421
. . . . . . g.5281
gctgctgcccttcctcctcctcctcagtccaagtgatcacaaaagaaatcttctgagccg c.-361
. . . . . . g.5341
gaggcggtggcattttttaaaaagcaagcacattggagagaaagaaaaagaaaaacaaaa c.-301
. . . . . . g.5401
ccaaaacaaaacccaggcaccagacagccagaacatttttttttcacccttcctgaaaac c.-241
. . . . . . g.5461
aaacaaacaaacaaacaatcatcaaaacagtcaccaccaacatcaaaactgttaacatag c.-181
. . . . . . g.5521
cggcggcggcggcaaacgtcaccctgcagccacggcgtccgcctaaagggatggttttct c.-121
. . . . . . g.5581
cggcagagcagctcttcgccgaccaccttcttcactcgtgctgagcgggatttttgggct c.-61
. . . . . . g.5641
ctccggggttcgggctgggagcagcttcatgactacgcggagcgggagagcggccacacc c.-1
| 02. . . . . . g.137999
ATGCGAG | CACAAATTGAAGTGATACCATGCAAAATTTGTGGCGATAAGTCCTCTGGGATC c.60
M R A | Q I E V I P C K I C G D K S S G I p.20
. . . | 03 . . . g.142322
CACTACGGAGTCATCACATGTGAAGGCTGCAAG | GGATTCTTTAGGAGGAGCCAGCAGAAC c.120
H Y G V I T C E G C K | G F F R R S Q Q N p.40
. . . . . . g.142382
AATGCTTCTTATTCCTGCCCAAGGCAGAGAAACTGTTTAATTGACAGAACGAACAGAAAC c.180
N A S Y S C P R Q R N C L I D R T N R N p.60
. . . . . | 04 . g.150083
CGTTGCCAACACTGCCGACTGCAGAAGTGTCTTGCCCTAGGAATGTCAAGAGATG | CTGTG c.240
R C Q H C R L Q K C L A L G M S R D A | V p.80
. . . . . . g.150143
AAGTTTGGGAGGATGTCCAAGAAGCAAAGGGACAGCCTGTATGCTGAGGTGCAGAAGCAC c.300
K F G R M S K K Q R D S L Y A E V Q K H p.100
. . . . . . g.150203
CAGCAGCGGCTGCAGGAACAGCGGCAGCAGCAGAGTGGGGAGGCAGAAGCCCTTGCCAGG c.360
Q Q R L Q E Q R Q Q Q S G E A E A L A R p.120
. . . . . . g.150263
GTGTACAGCAGCAGCATTAGCAACGGCCTGAGCAACCTGAACAACGAGACCAGCGGCACT c.420
V Y S S S I S N G L S N L N N E T S G T p.140
. . . . . . g.150323
TATGCCAACGGGCACGTCATTGACCTGCCCAAGTCTGAGGGTTATTACAACGTCGATTCC c.480
Y A N G H V I D L P K S E G Y Y N V D S p.160
. . . . . . g.150383
GGTCAGCCGTCCCCTGATCAGTCAGGACTTGACATGACTGGAATCAAACAGATAAAGCAA c.540
G Q P S P D Q S G L D M T G I K Q I K Q p.180
. . . . . . g.150443
GAACCTATCTATGACCTCACATCCGTACCCAACTTGTTTACCTATAGCTCTTTCAACAAT c.600
E P I Y D L T S V P N L F T Y S S F N N p.200
. . . | 05. . . g.168304
GGGCAGTTAGCACCAGGGATAACCATGACTGAAATCG | ACCGAATTGCACAGAACATCATT c.660
G Q L A P G I T M T E I D | R I A Q N I I p.220
. . . . . . g.168364
AAGTCCCATTTGGAGACATGTCAATACACCATGGAAGAGCTGCACCAGCTGGCGTGGCAG c.720
K S H L E T C Q Y T M E E L H Q L A W Q p.240
. . . | 06 . . g.170159
ACCCACACCTATGAAGAAATTAAAGCATATCAAAGCAAG | TCCAGGGAAGCACTGTGGCAA c.780
T H T Y E E I K A Y Q S K | S R E A L W Q p.260
. . . . . . g.170219
CAATGTGCCATCCAGATCACTCACGCCATCCAATACGTGGTGGAGTTTGCAAAGCGGATA c.840
Q C A I Q I T H A I Q Y V V E F A K R I p.280
. . . . . | 07 . g.173160
ACAGGCTTCATGGAGCTCTGTCAAAATGATCAAATTCTACTTCTGAAGTCAG | GTTGCTTG c.900
T G F M E L C Q N D Q I L L L K S G | C L p.300
. . . . . . g.173220
GAAGTGGTTTTAGTGAGAATGTGCCGTGCCTTCAACCCATTAAACAACACTGTTCTGTTT c.960
E V V L V R M C R A F N P L N N T V L F p.320
. . . . | 08 . . g.175475
GAAGGAAAATATGGAGGAATGCAAATGTTCAAAGCCTTAG | GTTCTGATGACCTAGTGAAT c.1020
E G K Y G G M Q M F K A L G | S D D L V N p.340
. . . . . . g.175535
GAAGCATTTGACTTTGCAAAGAATTTGTGTTCCTTGCAGCTGACCGAGGAGGAGATCGCT c.1080
E A F D F A K N L C S L Q L T E E E I A p.360
. . . | 09 . . . g.179482
TTGTTCTCATCTGCTGTTCTGATATCTCCAG | ACCGAGCCTGGCTTATAGAACCAAGGAAA c.1140
L F S S A V L I S P D | R A W L I E P R K p.380
. . . . . . g.179542
GTCCAGAAGCTTCAGGAAAAAATTTATTTTGCACTTCAACATGTGATTCAGAAGAATCAC c.1200
V Q K L Q E K I Y F A L Q H V I Q K N H p.400
. . | 10 . . . . g.193163
CTGGATGATGAGACCTTGGCAAAG | TTAATAGCCAAGATACCAACCATCACGGCAGTTTGC c.1260
L D D E T L A K | L I A K I P T I T A V C p.420
. . . . . . g.193223
AACTTGCACGGGGAGAAGCTGCAGGTATTTAAGCAATCTCATCCAGAGATAGTGAATACA c.1320
N L H G E K L Q V F K Q S H P E I V N T p.440
. . . . . . g.193283
CTGTTTCCTCCGTTATACAAGGAGCTCTTTAATCCTGACTGTGCCACCGGCTGCAAATGA c.1380
L F P P L Y K E L F N P D C A T G C K X p.459
. . . . . . g.193343
aggggacaagagaactgtctcatagtcatggaatgcatcaccattaagacaaaagcaatg c.*60
. . . . . . g.193403
tgttcatgaagacttaagaaaaatgtcactactgcaacattaggaatgtcctgcacttaa c.*120
. . . . . . g.193463
tagaattatttttcaccgctacagtttgaagaatgtaaatatgcacctgagtggggctct c.*180
. . . . . . g.193523
tttatttgtttgtttgtttttgaaatgaccataaatatacaaatataggacactgggtgt c.*240
. . . . . . g.193583
tatcctttttttaattttattcgggtatgttttgggagacaactgtttatagaattttat c.*300
. . . . . . g.193643
tgtagatatatacaagaaaagagcggtactttacatgattacttttcctgttgattgttc c.*360
. . . . . . g.193703
aaatataatttaagaaaattccacttaataggcttacctatttctatgtttttaggtagt c.*420
. . . . . . g.193763
tgatgcatgtgtaaatttgtagctgtcttggaaagtactgtgcatgtatgtaataagtat c.*480
. . . . . . g.193823
ataatatgtgagaatattatatatgactattacttatacatgcacatgcactgtggctta c.*540
. . . . . . g.193883
aataccatacctactagcaatggaggttcagtcaggctctcttctatgatttaccttctg c.*600
. . . . . . g.193943
tgttatatgttacctttatgttagacaatcaggattttgttttcccagccagagttttca c.*660
. . . . . . g.194003
tctatagtcaatggcaggacggtaccaactcagagttaagtctacaaaggaataaacata c.*720
. . . . . . g.194063
atgtgtggcctctatatacaaactctatttctgtcaatgacatcaaagccttgtcaagat c.*780
. . . . . . g.194123
ggttcatattgggaaggagacagtattttaagccattttcctgtttcaagaattaggcca c.*840
. . . . . . g.194183
cagataacattgcaaggtccaagacttttttgaccaaacagtagatattttctatttttc c.*900
. . . . . . g.194243
accagaacacataaaaacactttttttcttttggatttctggttgtgaaacaagcttgat c.*960
. . . . . . g.194303
ttcagtgcttattgtgtcttcaactgaaaaatacaatctgtggattatgactaccagcaa c.*1020
. . . . . . g.194363
tttttttctaggaaagttaaaagaataaatcagaacccagggcaacaatgccatttcatg c.*1080
. . . . . . g.194423
taaacattttctctctcaccatgttttggcaagaaaaggtagaaagagaagacccagagt c.*1140
. . . . . . g.194483
gaagaagtaattctttatattcctttctttaatgtatttgttaggaaaagtggcaataaa c.*1200
. . . . . . g.194543
gggggaggcatattataaaatgctataatataaaaatgtagcaaaaacttgacagactag c.*1260
. . . . . . g.194603
aaaaaaaaagatctgtgttattctagggaactaatgtaccccaaagccaaaactaattcc c.*1320
. . . . . . g.194663
tgtgaagtttacagttacatcatccatttaccctagaattatttttttagcaacttttag c.*1380
. . . . . . g.194723
aaataaagaatacaactgtgacattaggatcagagattttagacttccttgtacaaattc c.*1440
. . . . . . g.194783
tcacttctccacctgctcaccaatgaaattaatcataagaaaagcatatattccaagaaa c.*1500
. . . . . . g.194843
tttgttctgcctgtgtcctggaggcctatacctctgttattttctgatacaaaataaaac c.*1560
. . g.194866
ttaaaaaaaagaaaacaagctaa c.*1583
(downstream sequence)
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