(used for variant description)
(last modified June 5, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018662.2 in the DISC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011681.1, covering DISC1 transcript NM_018662.2.
(upstream sequence)
. . . . . g.5053
ggaaggagcaggaggcagcccaggcggagcgggaggagctggcagcggggcgc c.-1
. . . . . . g.5113
ATGCCAGGCGGGGGTCCTCAGGGCGCCCCAGCCGCCGCCGGCGGCGGCGGCGTGAGCCAC c.60
M P G G G P Q G A P A A A G G G G V S H p.20
| 02. . . . . . g.72064
CGCGCAG | GCAGCCGGGATTGCTTACCACCTGCAGCGTGCTTTCGGAGGCGGCGGCTGGCA c.120
R A G | S R D C L P P A A C F R R R R L A p.40
. . . . . . g.72124
CGGAGGCCGGGCTACATGAGAAGCTCGACAGGGCCTGGGATCGGGTTCCTTTCCCCAGCA c.180
R R P G Y M R S S T G P G I G F L S P A p.60
. . . . . . g.72184
GTGGGCACACTGTTCCGGTTCCCAGGAGGGGTGTCTGGCGAGGAGTCCCACCACTCGGAG c.240
V G T L F R F P G G V S G E E S H H S E p.80
. . . . . . g.72244
TCCAGGGCCAGACAGTGTGGCCTTGACTCGAGAGGCCTCTTGGTCCGGAGCCCTGTTTCC c.300
S R A R Q C G L D S R G L L V R S P V S p.100
. . . . . . g.72304
AAGAGTGCAGCAGCCCCTACTGTGACCTCTGTGAGAGGAACCTCGGCGCACTTTGGGATT c.360
K S A A A P T V T S V R G T S A H F G I p.120
. . . . . . g.72364
CAGCTCAGAGGTGGCACCAGATTGCCTGACAGGCTTAGCTGGCCGTGTGGCCCTGGGAGT c.420
Q L R G G T R L P D R L S W P C G P G S p.140
. . . . . . g.72424
GCTGGGTGGCAGCAAGAGTTTGCAGCCATGGATAGTTCTGAGACCCTGGACGCCAGCTGG c.480
A G W Q Q E F A A M D S S E T L D A S W p.160
. . . . . . g.72484
GAGGCAGCCTGCAGCGATGGAGCAAGGCGTGTCCGGGCAGCAGGCTCTCTGCCATCAGCA c.540
E A A C S D G A R R V R A A G S L P S A p.180
. . . . . . g.72544
GAGTTGAGTAGCAACAGCTGCAGCCCTGGCTGTGGCCCTGAGGTCCCCCCAACCCCTCCT c.600
E L S S N S C S P G C G P E V P P T P P p.200
. . . . . . g.72604
GGCTCTCACAGTGCCTTTACCTCAAGCTTTAGCTTTATTCGGCTCTCGCTTGGCTCTGCC c.660
G S H S A F T S S F S F I R L S L G S A p.220
. . . . . . g.72664
GGGGAACGTGGAGAAGCAGAAGGCTGCCCACCATCCAGAGAGGCTGAGTCCCATTGCCAG c.720
G E R G E A E G C P P S R E A E S H C Q p.240
. . . . . . g.72724
AGCCCCCAGGAGATGGGAGCCAAAGCTGCCAGCTTGGACGGGCCTCACGAGGACCCGCGA c.780
S P Q E M G A K A A S L D G P H E D P R p.260
. . . . . . g.72784
TGTCTCTCTCGGCCCTTCAGTCTCTTGGCTACACGGGTCTCTGCAGACTTGGCCCAGGCC c.840
C L S R P F S L L A T R V S A D L A Q A p.280
. . . . . . g.72844
GCAAGGAACAGCTCCAGGCCAGAGCGTGACATGCATTCTTTACCAGACATGGACCCTGGC c.900
A R N S S R P E R D M H S L P D M D P G p.300
. . . . . . g.72904
TCCTCCAGTTCTCTGGATCCCTCACTGGCTGGCTGTGGTGGTGATGGGAGCAGCGGCTCA c.960
S S S S L D P S L A G C G G D G S S G S p.320
. . . . . . g.72964
GGGGATGCCCACTCTTGGGACACCCTGCTCAGGAAATGGGAGCCAGTGCTGCGGGACTGC c.1020
G D A H S W D T L L R K W E P V L R D C p.340
. . | 03. . . . g.80173
CTGCTGAGAAACCGGAGGCAGATGGAG | GTAATATCCTTAAGATTAAAACTTCAGAAACTT c.1080
L L R N R R Q M E | V I S L R L K L Q K L p.360
. . . | 04. . . g.128134
CAGGAAGATGCAGTTGAGAATGATGATTATGATAAAG | CTGAGACGTTACAACAAAGATTA c.1140
Q E D A V E N D D Y D K A | E T L Q Q R L p.380
. . . . . . g.128194
GAAGACCTGGAACAAGAGAAAATCAGCCTGCACTTTCAACTTCCTTCAAGGCAGCCAGCT c.1200
E D L E Q E K I S L H F Q L P S R Q P A p.400
. . . . . . g.128254
CTTAGCAGTTTCCTGGGTCACCTGGCAGCACAAGTCCAGGCTGCCTTGCGCCGTGGGGCC c.1260
L S S F L G H L A A Q V Q A A L R R G A p.420
| 05 . . . . . g.145377
ACTCAGCA | GGCCAGCGGAGATGACACCCACACCCCACTGAGAATGGAGCCGAGGCTGTTG c.1320
T Q Q | A S G D D T H T P L R M E P R L L p.440
. . . . . . g.145437
GAACCCACTGCTCAGGACAGCTTGCACGTGTCCATCACGAGACGAGACTGGCTTCTTCAG c.1380
E P T A Q D S L H V S I T R R D W L L Q p.460
. | 06 . . . . g.149062
GAAAAGCAGCAGCTACAG | AAAGAAATCGAAGCTCTCCAAGCAAGGATGTTTGTGCTGGAA c.1440
E K Q Q L Q | K E I E A L Q A R M F V L E p.480
. . . . . . g.149122
GCCAAAGATCAACAGCTGAGAAGGGAAATAGAGGAGCAAGAGCAGCAACTCCAGTGGCAG c.1500
A K D Q Q L R R E I E E Q E Q Q L Q W Q p.500
. . . . . . g.149182
GGCTGCGACCTGACCCCACTGGTGGGCCAGCTGTCCCTGGGTCAGCTGCAGGAGGTCAGC c.1560
G C D L T P L V G Q L S L G Q L Q E V S p.520
. . . . . . g.149242
AAGGCCTTGCAGGACACCCTGGCCTCAGCCGGTCAGATTCCCTTCCATGCAGAGCCACCG c.1620
K A L Q D T L A S A G Q I P F H A E P P p.540
. | 07 . . . . . g.173473
GAAACCATAAGGAG | CCTCCAGGAAAGAATAAAATCCCTCAACTTGTCACTTAAAGAAATC c.1680
E T I R S | L Q E R I K S L N L S L K E I p.560
| 08 . . . . . g.178344
ACTACTAAG | GTGTGTATGAGTGAGAAATTCTGCAGCACCCTGAGGAAGAAAGTTAACGAT c.1740
T T K | V C M S E K F C S T L R K K V N D p.580
. . . . . | 09 . g.196522
ATTGAAACCCAACTACCAGCCTTGCTTGAAGCCAAAATGCATGCCATATCAG | GAAACCAT c.1800
I E T Q L P A L L E A K M H A I S G | N H p.600
. . . . . . g.196582
TTCTGGACGGCTAAAGACCTCACCGAGGAGATTAGATCATTAACATCAGAGAGAGAAGGG c.1860
F W T A K D L T E E I R S L T S E R E G p.620
. . . . . . g.196642
CTGGAGGGACTCCTCAGCAAGCTGTTGGTGTTGAGTTCCAGGAATGTCAAAAAGCTGGGA c.1920
L E G L L S K L L V L S S R N V K K L G p.640
. . . . . . g.196702
AGTGTTAAAGAAGATTACAACAGACTGAGAAGAGAAGTGGAGCACCAGGAGACTGCCTAT c.1980
S V K E D Y N R L R R E V E H Q E T A Y p.660
| 10 . . . . . . g.337072
G | AAACAAGTGTGAAGGAAAATACTATGAAGTACATGGAAACACTTAAGAATAAACTGTGC c.2040
E | T S V K E N T M K Y M E T L K N K L C p.680
| 11 . . . . . . g.387028
AG | CTGCAAGTGTCCACTGCTTGGGAAAGTGTGGGAAGCTGACTTGGAAGCTTGTCGATTG c.2100
S | C K C P L L G K V W E A D L E A C R L p.700
. . . . . . g.387088
CTTATCCAGAGCCTACAGCTCCAGGAAGCCAGGGGAAGCCTGTCTGTAGAAGATGAGAGG c.2160
L I Q S L Q L Q E A R G S L S V E D E R p.720
. . . . . . g.387148
CAGATGGATGACTTAGAGGGAGCTGCTCCTCCTATTCCCCCCAGGCTCCACTCCGAGGAT c.2220
Q M D D L E G A A P P I P P R L H S E D p.740
. . . . . . g.387208
AAAAGGAAGACCCCTTTGAAGGTATTGGAAGAATGGAAGACTCACCTCATCCCCTCTCTG c.2280
K R K T P L K V L E E W K T H L I P S L p.760
. . | 12. . . . g.404653
CACTGTGCTGGAGGTGAACAGAAAGAG | GAATCTTACATCCTTTCTGCAGAACTTGGAGAA c.2340
H C A G G E Q K E | E S Y I L S A E L G E p.780
. . . . . . g.404713
AAGTGTGAAGACATAGGCAAGAAGCTATTGTACTTGGAAGATCAACTTCACACAGCAATC c.2400
K C E D I G K K L L Y L E D Q L H T A I p.800
. . | 13 . . . . g.414912
CACAGTCATGATGAAGATCTCATTC | AGTCTCTCAGGAGGGAGCTCCAGATGGTGAAGGAA c.2460
H S H D E D L I Q | S L R R E L Q M V K E p.820
. . . . . . g.414972
ACTCTGCAGGCCATGATCCTGCAGCTCCAGCCAGCAAAGGAGGCGGGAGAAAGAGAAGCT c.2520
T L Q A M I L Q L Q P A K E A G E R E A p.840
. . . . g.415017
GCAGCTTCCTGCATGACAGCTGGTGTCCACGAAGCACAAGCCTGA c.2565
A A S C M T A G V H E A Q A X p.854
. . . . . . g.415077
ggagtgacgggatgggggagggaggtgggccaccatgtttggacccggggggctgctctt c.*60
. . . . . . g.415137
ccctcccccgccatagctaagatgcctgaatcaattacggagatacagagccttgaggtc c.*120
. . . . . . g.415197
tttcagtggaaaggtggttcatgttcattctcatcagtgtgaaactgaggagtctgcaat c.*180
. . . . . . g.415257
ttggaatatggagagagagactgatttgctgaatttccttctaaatgtcactcaaaaatt c.*240
. . . . . . g.415317
tcttttccatgtcattcttgggaatgtcttccacaggatttgagaatagtttcatctcag c.*300
. . . . . . g.415377
cccccattagagagaagttggggtgaattctggaaaaatgtctctttttcctgtgccatt c.*360
. . . . . . g.415437
tgccttctgctgcaacgaaaatatttcctgattcaagattctataaaaaggaaaccaagc c.*420
. . . . . . g.415497
ataagactctgtcatcatacctgttacacgttcctacaggtgcacaatctaagagagcta c.*480
. . . . . . g.415557
attaacctcagagtctggagttaacagcttttcaccttacttctcctgtgatctaatatt c.*540
. . . . . . g.415617
atcttagaaaaattaatatgcaatttccaaaagatattttggtaagacaacaacctccca c.*600
. . . . . . g.415677
gtgatatgccacctttcaattttccttttgtggcaatgattgcatctgaagaaaggatcc c.*660
. . . . . . g.415737
ctgagagtctctgtttcatcaggacattctgaaatttacccacagtgaggctgtggatgg c.*720
. . . . . . g.415797
atcaggggacctgtataaaatgtttgagcctgttccattttcccgtggaacctgtttcac c.*780
. . . . . . g.415857
tcaatgccaggcagtgcagcatttaggaaagcagtgcagtactcagtaaggcagtgcagt c.*840
. . . . . . g.415917
actcagtaacacaatacagtactcaggcagtgcagtactcagtaagacagtgcagtgctc c.*900
. . . . . . g.415977
agtaaggcagtgcaatactcagtaacagtgtagtactcagtaacagtgaagtactcagta c.*960
. . . . . . g.416037
atacagtacagtattcagtaaggcagtgaagtactcagtaatacaatacagtactcagtt c.*1020
. . . . . . g.416097
aggcagtgcagtactcaggaatgcagcacagtactcaggcagtgcaatactcagtgcggt c.*1080
. . . . . . g.416157
actcagtaacacagtgcagtactcagtaacagtgcagtactcagtaacagtgcagtactc c.*1140
. . . . . . g.416217
agtaaggcagtgcagtactcagtaacacagtgcagtactcagtaatacagtacagtactc c.*1200
. . . . . . g.416277
agtaaggcagtatggtactcagtaaagcaatgcaatgctcagtaacacagtgcagtgctc c.*1260
. . . . . . g.416337
aataaggcagtgcagtgctcagtaaggcagtgaattgcttagtaacacagtgtagtgctc c.*1320
. . . . . . g.416397
agtaggacagcatagtactcagtaacacagggcagctagtactcagtactataagtactg c.*1380
. . . . . . g.416457
agtacttatataggcaatgtagtactcagtaaatcagtgcagtactcagtaatgcaaggg c.*1440
. . . . . . g.416517
catttcaggctcctgctgggctgcttctttggcccagctgggactcctattgagacagct c.*1500
. . . . . . g.416577
gcaaaacaggctgatttcaattaggcagcacttcccaaagtgcactgaggaaggtggccc c.*1560
. . . . . . g.416637
caagagaagctctctaaacaaaggagtaccctctctggtcaagtacctttggtaaataca c.*1620
. . . . . . g.416697
ccataccataatatctgcttggagaaccacaatgcacattagcatattagtctgagagag c.*1680
. . . . . . g.416757
aacttatagtaaggaaactcacttgattttatctaacctcaaactttccaagtttaatgg c.*1740
. . . . . . g.416817
atcgtgaatttttttcatgtaactcctattcatatcccatagatctagtattgtacagca c.*1800
. . . . . . g.416877
ctgcattctctgaggaagtcccagtccaaactctgatttacatcactttagaaaccacac c.*1860
. . . . . . g.416937
tcacacttttgcagagtgttgagcttaataactacctgccacagattggtaaatttaatc c.*1920
. . . . . . g.416997
cagtggttgttctgtttgtgcttctgttctcatttatgtgtttagggatagtgaggttcc c.*1980
. . . . . . g.417057
tgccttcactaggatccacggatatgagaccatttttgtcatttcctgaagtcacactgg c.*2040
. . . . . . g.417117
cgtttccagaaggcatctggtgctttgctcagccttccatgctgtgcagcacttctgtcc c.*2100
. . . . . . g.417177
tcagtcaaggagatggccatgcttaagccagcaattggctggggtccaggaaacaaagca c.*2160
. . . . . . g.417237
aaagcacaatatgtgaatgtgctgattgtgttccctatggctttatctcgagcaaaatac c.*2220
. . . . . . g.417297
actctacatattttaataataagtataattagcttgttcctggacttcattttcaatgat c.*2280
. . . . . . g.417357
gaaccaaattcctgaattatttataattgtgtctaaagaaaattatgaactggtcacatg c.*2340
. . . . . . g.417417
gcacttggaatccttgagttaattccagtgaagcaaaacttgggaagagtcaggattggc c.*2400
. . . . . . g.417477
cacattgccaataacaaattcctacttcgacatatgtcttttcaaaaagcctcccagaca c.*2460
. . . . . . g.417537
caagacatcttaaccgtcactagcccaagtgttttgtattactcagacaccatcatgaaa c.*2520
. . . . . . g.417597
taattctgtgaggtcatgatgtatttgaaaattctgcaagttaataactgccttgaattg c.*2580
. . . . . . g.417657
tttgaacccgaaataagggttctttggtacctctagtagatagtgtgttcatttccctgc c.*2640
. . . . . . g.417717
tgcaaattttgaagtatttgggcaggtgagtcatgttttaaccacaagccataactcatc c.*2700
. . . . . . g.417777
tgttgtctttgcttggtcttagagtatcattcagaaagtccgctaagggccagcgtgctt c.*2760
. . . . . . g.417837
cttctggctacacaaccttctcaggacaagcccactgtcttaagccactttgaccctggg c.*2820
. . . . . . g.417897
agacacaggactgtgtatcctcaatcatactatacagcagtttttgtcaggggaacataa c.*2880
. . . . . . g.417957
aaatatccaagagaggttagggcttagatttaaaagcatcaaaacaacaacaatggaaat c.*2940
. . . . . . g.418017
ttatgttggcgatagccaagaccacaagcaaaagcacatactggaaatgatgagttagaa c.*3000
. . . . . . g.418077
tctgatttgactgggatgttttatgagaatgtaagtgtgatattatactgtctgccttgc c.*3060
. . . . . . g.418137
tggaatgctggctttcaaatggtcacccatttttctttcactggcctgagttaggacatg c.*3120
. . . . . . g.418197
ctatcagtaatagtcccagttccatccaactttctgaaatttcatttttttttttgagat c.*3180
. . . . . . g.418257
ggagtctctctctgtcacccaagttggagtgcagtggccccgcaatctcggctcactgca c.*3240
. . . . . . g.418317
acctctacctcccaggttcaagctattctactgcctcagcctcccaagtagctggggtta c.*3300
. . . . . . g.418377
caggcatttgccaccgggccctgatgatttttgtatttttagtagagacagggcttcacc c.*3360
. . . . . . g.418437
atgttggctaggagggtctcaaactcctgacctcaggcgatccacccccacctcggcttc c.*3420
. . . . . . g.418497
ccaaagtgctgagattacaggtgtgagccaccgcacccggccaactttctgaaatttcaa c.*3480
. . . . . . g.418557
aactgaattgatccttctccaaattagtatatactattggaaacttgtctttccctgcag c.*3540
. . . . . . g.418617
taaggctggtttccccaccccagaaacatgtaacggttggtaccatgctaagcccttgcc c.*3600
. . . . . . g.418677
atgctaagccctttacagtcatatcctataatccccatatcaaccttataaggaaggtgt c.*3660
. . . . . . g.418737
ttgtagatgatgcaactgagccttaagaggactaattccctttttctaaggcacagagct c.*3720
. . . . . . g.418797
ggtaaaatgtgaagtaatagtgaacctaacagtcagagacaggcagcatgctcttaacta c.*3780
. . . . . . g.418857
gtgctcttcctaaagttcctttaatgtccttttgagattttgagccatggaacttacttg c.*3840
. . . . . . g.418917
ttcacctggctaagaactcatggccactgtggaaatcttggttagggagtcaaagaaact c.*3900
. . . . . . g.418977
gagcctggggcaaacgaggcttcccacactgccaggggagcctcactgtgaagtctaggc c.*3960
. . . . . . g.419037
tcagacaggcatcaacaaacctattcaccccaccatcatcctgatctaaccattccccag c.*4020
. . . . . . g.419097
tcatcccaggaaaaccactcacagcctgacactgggctgactttcttgaagatcctcatc c.*4080
. . . . . . g.419157
caattggtgtttttcagaagtgttccaatattatgaattctgtgttgtggagaaaagcaa c.*4140
. . . . . . g.419217
ccatgcatttactggtcaatgccttcttgtatatgtaattcaatacttttacttttaata c.*4200
. . . . . . g.419277
tcctcaccttatctaatctttgaattttgtcatgtaatttattgcttcattaaggttact c.*4260
. . . . . . g.419337
ttttgttatacaaaataaaagctgatatccaaggcatggtgcatcttgatgattttttgt c.*4320
. . . . . . g.419397
cctttgaagtatggatgatagaaaaatgtatcaggtttattcatctcatctttctgttac c.*4380
. . . . . . g.419457
aggatgattaattgtacagttacatcacacgaaacatttataataaagtcatgctttaga c.*4440
g.419458
a c.*4441
(downstream sequence)
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