(used for variant description)
(last modified December 13, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001172509.1 in the SATB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016976.1, covering SATB2 transcript NM_001172509.1.
(upstream sequence)
. . . g.18207
aaattattattttgaaggcgctagatctggggaccga c.-781
. . . . . . g.18267
aagggggagggggagaaatcggaaaccgaggacaacccaaaaggactcactttgcctgat c.-721
. . . . . . g.18327
gactcaacgcaactaataatcatctccctctcagtgtgtctctctctgcggcttgtcagt c.-661
. . . . . . g.18387
gagtccggctctggctgctggcagaggcggccgagaggggagaggctggaggtgacagct c.-601
. . . . . . g.18447
tgggcggccgccgcgtttcctcccgcgcgcggtcccgggtccctgcgtcttctcggctct c.-541
. . . . . . g.18507
tggtgttaccggtcccaccgctctggccgcgcctcctcgcgagctagccgccctgcgaac c.-481
. . . . . . g.18567
cagcagccccggctcgccgccgccgccgccgcctccgggttctcagccctttctctccag c.-421
. . . . . . g.18627
aacgggtctccttcccgaaggtgtgaaaaggctctttcagcctccttctcttcccccctc c.-361
. . . . . . g.18687
ctccgccgtcccctcccccgctcgctcgggtgtccctttggaggagtcctttccctctcc c.-301
. . . . . . g.18747
tcctcctccccctcctccctccccccatcatcatcataacaaccatctccgcaccagaag c.-241
. . . . . . g.18807
aagacaccctgacccaggaccttaaacattaggacctggggaagagggaaggggaaggag c.-181
. . . . . . g.18867
taaagaggaagactaggagaacactgcaaagccaagcaccagaaactttccaccctggat c.-121
. . . . . . g.18927
tctctacttttgctccatggacagagccccagtcagccaagtttcagacagaccgtgagc c.-61
. | 02 . . . . . g.20229
a | gtccctgtgcgttttattgcgacctgccggtgggaactttgtctccgagtcggagcagc c.-1
. . . . . . g.20289
ATGGAGCGGCGGAGCGAGAGCCCGTGTCTGCGGGACAGCCCCGACCGGCGGAGCGGCAGC c.60
M E R R S E S P C L R D S P D R R S G S p.20
. . . . . . g.20349
CCGGACGTCAAGGGGCCTCCCCCAGTGAAGGTGGCCCGGCTGGAGCAGAACGGCAGCCCC c.120
P D V K G P P P V K V A R L E Q N G S P p.40
. . . . | 03 . g.42763
ATGGGAGCCCGCGGGAGGCCCAACGGCGCCGTGGCCAAGGCCGTGGGAG | GTTTGATGATT c.180
M G A R G R P N G A V A K A V G G | L M I p.60
. . . . . . g.42823
CCTGTCTTTTGTGTCGTGGAGCAGTTGGACGGCTCTCTTGAATATGACAACAGAGAAGAA c.240
P V F C V V E Q L D G S L E Y D N R E E p.80
. . . . . . g.42883
CACGCCGAGTTTGTCCTGGTGCGGAAAGATGTGCTTTTTAGCCAGCTGGTGGAGACTGCG c.300
H A E F V L V R K D V L F S Q L V E T A p.100
. . . . | 04 . . g.94460
CTCCTGGCCCTGGGGTATTCTCACAGCTCTGCGGCCCAGGCCCAAG | GAATAATCAAGCTG c.360
L L A L G Y S H S S A A Q A Q G | I I K L p.120
. . . . . . g.94520
GGAAGGTGGAACCCTCTCCCCCTCAGTTATGTGACAGATGCACCCGACGCGACAGTGGCC c.420
G R W N P L P L S Y V T D A P D A T V A p.140
. . . . . | 05 . g.95786
GACATGCTACAAGATGTCTATCATGTTGTGACGTTGAAAATCCAATTACAAAG | TTGTTCA c.480
D M L Q D V Y H V V T L K I Q L Q S | C S p.160
. . . . . . g.95846
AAGTTGGAAGACTTGCCTGCGGAGCAGTGGAACCATGCCACAGTCCGCAATGCCTTAAAG c.540
K L E D L P A E Q W N H A T V R N A L K p.180
. . . . . | 06. g.107562
GAACTGCTCAAAGAGATGAACCAGAGCACATTAGCCAAAGAATGCCCTCTCTCCCAG | AGT c.600
E L L K E M N Q S T L A K E C P L S Q | S p.200
. . . . . . g.107622
ATGATTTCATCCATTGTAAATAGCACATATTATGCCAATGTGTCAGCAACCAAGTGCCAG c.660
M I S S I V N S T Y Y A N V S A T K C Q p.220
. . . . | 07 . . g.127113
GAGTTTGGGAGATGGTATAAAAAGTACAAGAAGATTAAAG | TGGAAAGAGTGGAACGAGAA c.720
E F G R W Y K K Y K K I K V | E R V E R E p.240
. . . . . . g.127173
AACCTTTCAGACTATTGTGTTCTGGGCCAGCGTCCAATGCATTTACCAAATATGAACCAG c.780
N L S D Y C V L G Q R P M H L P N M N Q p.260
. . . . . . g.127233
CTGGCATCCCTGGGGAAAACCAACGAACAGTCTCCTCACAGCCAAATTCACCACAGTACT c.840
L A S L G K T N E Q S P H S Q I H H S T p.280
. . . . . . g.127293
CCAATCCGAAACCAAGTGCCCGCATTACAGCCCATCATGAGCCCTGGTCTTCTTTCTCCC c.900
P I R N Q V P A L Q P I M S P G L L S P p.300
. . . . . . g.127353
CAGCTTAGTCCACAACTTGTAAGGCAACAAATAGCCATGGCCCATCTGATAAACCAACAG c.960
Q L S P Q L V R Q Q I A M A H L I N Q Q p.320
. . . . . . g.127413
ATTGCCGTTAGCCGGCTCCTGGCTCACCAGCATCCTCAAGCCATCAACCAGCAGTTCCTG c.1020
I A V S R L L A H Q H P Q A I N Q Q F L p.340
. . . . . . g.127473
AACCATCCACCCATCCCCAGAGCAGTTAAGCCAGAGCCAACCAACTCTTCCGTGGAAGTC c.1080
N H P P I P R A V K P E P T N S S V E V p.360
. . . . . . g.127533
TCTCCAGATATCTACCAGCAAGTCAGAGATGAGCTGAAGAGGGCCAGTGTGTCCCAAGCT c.1140
S P D I Y Q Q V R D E L K R A S V S Q A p.380
. . . | 08 . . . g.147383
GTCTTTGCAAGAGTGGCATTCAACCGCACACAG | GGATTGTTGTCTGAGATTCTGCGTAAG c.1200
V F A R V A F N R T Q | G L L S E I L R K p.400
. . . . . . g.147443
GAAGAAGACCCTCGGACAGCCTCTCAGTCTCTTCTAGTAAACCTGAGGGCCATGCAGAAT c.1260
E E D P R T A S Q S L L V N L R A M Q N p.420
. . . . . . g.147503
TTCCTCAATCTGCCAGAAGTGGAGCGAGATCGCATCTACCAGGATGAGAGGGAGCGGAGC c.1320
F L N L P E V E R D R I Y Q D E R E R S p.440
. . . . . . g.147563
ATGAATCCCAATGTGAGCATGGTCTCCTCGGCCTCCAGCAGTCCCAGCTCCTCCCGAACC c.1380
M N P N V S M V S S A S S S P S S S R T p.460
| 09 . . . . . . g.152362
CCTCAG | GCCAAAACCTCGACACCGACAACAGACCTCCCTATTAAGGTGGACGGCGCCAAC c.1440
P Q | A K T S T P T T D L P I K V D G A N p.480
. . . . . . g.152422
ATCAACATCACAGCTGCCATTTATGACGAGATCCAACAGGAGATGAAAAGGGCCAAGGTG c.1500
I N I T A A I Y D E I Q Q E M K R A K V p.500
. . . . | 10 . . g.167327
TCTCAAGCCCTGTTTGCCAAAGTGGCTGCAAATAAAAGTCAG | GGCTGGCTGTGTGAACTG c.1560
S Q A L F A K V A A N K S Q | G W L C E L p.520
. . . . . . g.167387
CTCCGCTGGAAGGAGAACCCAAGCCCAGAAAACCGCACCCTCTGGGAAAACCTCTGTACC c.1620
L R W K E N P S P E N R T L W E N L C T p.540
. . . . . . g.167447
ATCCGTCGCTTCCTGAACCTTCCCCAGCATGAGAGGGATGTCATCTATGAGGAGGAGTCA c.1680
I R R F L N L P Q H E R D V I Y E E E S p.560
. . . . . . g.167507
AGGCATCACCACAGCGAACGCATGCAACACGTGGTCCAGCTTCCCCCTGAGCCGGTGCAG c.1740
R H H H S E R M Q H V V Q L P P E P V Q p.580
| 11 . . . . . . g.203654
| GTACTTCATAGACAGCAGTCTCAGCCAGCCAAGGAGAGTTCCCCTCCCAGAGAAGAAGCG c.1800
| V L H R Q Q S Q P A K E S S P P R E E A p.600
. . . . . . g.203714
CCTCCCCCACCTCCTCCGACTGAAGACAGTTGTGCCAAAAAGCCCCGGTCTCGCACAAAG c.1860
P P P P P P T E D S C A K K P R S R T K p.620
. . . . . . g.203774
ATCTCCTTAGAAGCCCTGGGGATCCTCCAAAGCTTTATTCATGATGTAGGCCTGTACCCA c.1920
I S L E A L G I L Q S F I H D V G L Y P p.640
. . . . . . g.203834
GACCAGGAAGCCATCCACACTCTTTCGGCTCAGCTGGATCTCCCCAAACACACCATCATC c.1980
D Q E A I H T L S A Q L D L P K H T I I p.660
. . . . . . g.203894
AAGTTCTTCCAGAACCAGCGGTACCACGTGAAGCACCACGGGAAGCTGAAAGAGCACCTG c.2040
K F F Q N Q R Y H V K H H G K L K E H L p.680
. . . . . . g.203954
GGCTCCGCGGTGGACGTGGCTGAATATAAGGACGAGGAGCTGCTGACCGAGTCAGAGGAG c.2100
G S A V D V A E Y K D E E L L T E S E E p.700
. . . . . . g.204014
AACGACAGCGAGGAAGGCTCCGAGGAGATGTACAAAGTGGAGGCTGAGGAGGAAAATGCT c.2160
N D S E E G S E E M Y K V E A E E E N A p.720
. . . . g.204056
GACAAAAGCAAGGCAGCACCTGCCGAAATTGACCAGAGATAA c.2202
D K S K A A P A E I D Q R X p.733
. . . . . . g.204116
tgtgaacttctactaggcaaagcaatacatcggtccaaggattttctgctttcatttctt c.*60
. . . . . . g.204176
taaaagttttttgttagtttgttttttgtttttgtttttgggtttttttggctttatttt c.*120
. . . . . . g.204236
tgtctttttatgtctgttttgtttttcttacccttttggacatttctttgttgcacagga c.*180
. . . . . . g.204296
tacacctatagactgaataagttcagtatttccgaatcagacatcgccttggcaaagaca c.*240
. . . . . . g.204356
ctaaagcgttacactttatcccgtctctatgactggatcatagtcattataatcacagga c.*300
. . . . . . g.204416
gactctgccttcattatccttgcacttaacggaagttacatcaggcaagtaccaggatga c.*360
. . . . . . g.204476
aaagaactatgaaataaatgaaggaagctacaagtgtgtgtgtatatgtatatgtatata c.*420
. . . . . . g.204536
tctctatatttacatatatatattaaaattgcatgggacagagactttgcaatccgaaag c.*480
. . . . . . g.204596
aatagactgtgaaatgagttcttaaagaaaagacttgtttatgtattaaaaaaaccactt c.*540
. . . . . . g.204656
cacagtgagtcgctttggctttttgataaactgcggcctgctctcagggtggggtgacta c.*600
. . . . . . g.204716
tttttgaattcctatttattttttgtgtttgtccctgattttttttttttaattctatgg c.*660
. . . . . . g.204776
cttcctatctggcagcttaatgggtaatttttgaggtatgtatttaacaaaataaacgac c.*720
. . . . . . g.204836
actgccgaaaaaaaaaaaagtgaagtgaaaacaatcagggcacattaaaatgatacaagt c.*780
. . . . . . g.204896
caaataaatcttaaagacacaatgcacacttaaaatgactcaataaaatgacttgctacg c.*840
. . . . . . g.204956
ttccgttattcaatttgtcattactgtagtgaacagatgcatttctgtggaattccaaat c.*900
. . . . . . g.205016
aagtaaaactgaaattcagtgcagagaaaactttgtccactagtgcaagtcttgatcaaa c.*960
. . . . . . g.205076
tgacattttgacattggacatatggaattcatagtatgagccacattttgttgtgaaatt c.*1020
. . . . . . g.205136
tatttacctgcttgtggcttcaaatctgaaaattaataagcctgctcgtttaaaagttgt c.*1080
. . . . . . g.205196
ttgttgttgctgtttttttgtctttttgttttttactagaaaatagttcagtgtaatatt c.*1140
. . . . . . g.205256
aagttagaaaagaagttgctgcccagttaaaggggctccctctcaaataaatctccatcc c.*1200
. . . . . . g.205316
ttccctctcccaaaagacatttctgatttctgcttcactttgggcttcctcttcttcgta c.*1260
. . . . . . g.205376
cacattccatctacctaatcaaacattttcagtccctgatctctcctgtcccttttcctg c.*1320
. . . . . . g.205436
ggatgacagccctaacaagaactgtttttgaatcgttgtgcagctccaggcaatagagta c.*1380
. . . . . . g.205496
tgtgaagcgatttcagtagaatcacttactcatcctaaaagaaaacattatcccagttac c.*1440
. . . . . . g.205556
ctacatcgcaattaccttatgtaaagcagaactaatgctgactggatgtttaatgggatg c.*1500
. . . . . . g.205616
agcattaaagctgcaatctactatagtactccagatctctttcggcttcctatgagaaac c.*1560
. . . . . . g.205676
accagaagcattactttccacttctacttacagtaattgcaagaggagacctcacattca c.*1620
. . . . . . g.205736
ggactggcctagtgaacgtaatccatgctttaaactggccattaaacagtcccacatggt c.*1680
. . . . . . g.205796
tggattttttttttttttttgagttgtgctttcacaaaaccttgtcaaagacctcatgca c.*1740
. . . . . . g.205856
atatcactttgaaagttattttctgtttactacacaaacattgtaatataactgttaata c.*1800
. . . . . . g.205916
ctatttatatatttgaaaggtataaaaggtaggagttaaaaaaaaaacctctatgtgtag c.*1860
. . . . . . g.205976
atattaactcagaacttacaatatacagggagaagacatgttgcaatacaagctaattct c.*1920
. . . . . . g.206036
agctgctcagtaacctctggagtttttaaagggacattttcctgtactttttcaaataat c.*1980
. . . . . . g.206096
gatgtttaaaaattatcttgacataagcgtcatatacctttgcaaaaggatggttgtttg c.*2040
. . . . . . g.206156
cagttagccctggccccatccttcctatttctgtagtatgctgcagctttaatcagaaag c.*2100
. . . . . . g.206216
tccatggttgctgcttcctgatctccgagttactctttccaaattgtcttcttacactgt c.*2160
. . . . . . g.206276
tgctgaaggtcactctgtacacgtaatggaaactgattttgccaagctcttacaaggtgg c.*2220
. . . . . . g.206336
ttcatctatcgatggcatccgcatttggtatcttttacacttcaaccaaaaatttattag c.*2280
. . . . . . g.206396
gtatttttcaatgctaagtcttgccttttattttttaatttcactgccaagtttgcagtg c.*2340
. . . . . . g.206456
gttctaagtgaatctgtgggcattttagcctgtggtcttgccagatctttgcgaattaca c.*2400
. . . . . . g.206516
atgcatatatgtctatttattcaatatctgtcatataatatctatttggaagaagaaact c.*2460
. . . . . . g.206576
ttctcttgtagtgcctcttgacaaagcacaatttcccgcctttttttttttttgtgaaat c.*2520
. . . . . . g.206636
gaaaaaaacaaattgtgttttattgcggtatcaacaatgtgaataaggattaacatattg c.*2580
. . . . . . g.206696
taaatgttcttttttccatgtaaatcaactatctttgttatcactaagtgataattaatt c.*2640
. . . . . . g.206756
tttaacttatgtgcattgttaggctgttagaattttttggttgttaaaataaacgcattc c.*2700
. g.206767
aataaatatga c.*2711
(downstream sequence)
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