(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_152383.4 in the DIS3L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032572.1, covering DIS3L2 transcript NM_152383.4.
(upstream sequence)
. . . g.5036
tttcgcccttgtcgcagctgaaccgccgactacgag c.-241
. . . . . . g.5096
ctcctgcaccgcgcacacaccccgcgcgcttcgctctcggcctcgcccggccaccgtcgc c.-181
. . . . . . g.5156
tctctagaacgccgcgcccgtgacccggaagagcattctccttagcaactgcgggactgc c.-121
. . . | 02 . . . g.58285
ggcggcgccggcctccggggagaaacg | cgaatgacaacagagctgctcaaggcgggaact c.-61
. . . . . . g.58345
ctgagctaagcagtggaggtttctctggatctggagagaagagtgaccttggagccaata c.-1
. . . . . | 03 . g.58939
ATGAGCCATCCTGACTACAGAATGAACCTCCGGCCCCTGGGGACCCCCAGAG | GTGTGTCT c.60
M S H P D Y R M N L R P L G T P R G | V S p.20
. . . . . . g.58999
GCTGTGGCTGGTCCACATGACATTGGTGCTTCGCCAGGTGACAAAAAGTCAAAGAACAGG c.120
A V A G P H D I G A S P G D K K S K N R p.40
. . . . . . g.59059
TCCACACGAGGGAAGAAAAAGAGCATATTTGAAACTTACATGTCCAAGGAGGATGTTTCA c.180
S T R G K K K S I F E T Y M S K E D V S p.60
. . . | 04 . . . g.67724
GAAGGCTTGAAGAGAGGAACACTCATCCAG | GGTGTATTGAGAATTAATCCAAAGAAGTTT c.240
E G L K R G T L I Q | G V L R I N P K K F p.80
. . | 05 . . . . g.73432
CATGAAGCCTTCATTCCTTCCCCG | GATGGTGATCGAGACATTTTTATTGATGGGGTTGTT c.300
H E A F I P S P | D G D R D I F I D G V V p.100
. . . . . . g.73492
GCTCGTAATAGAGCCTTAAATGGGGATCTGGTGGTCGTGAAACTGCTTCCCGAGGAGCAT c.360
A R N R A L N G D L V V V K L L P E E H p.120
| 06 . . . . . . g.130958
TGGAAG | GTAGTTAAACCAGAGAGCAATGACAAAGAAACAGAAGCTGCGTATGAATCAGAT c.420
W K | V V K P E S N D K E T E A A Y E S D p.140
. . . . . . g.131018
ATCCCCGAGGAGCTCTGTGGACACCATCTCCCGCAACAGTCCCTGAAAAGCTATAATGAC c.480
I P E E L C G H H L P Q Q S L K S Y N D p.160
. . . . . . g.131078
AGTCCTGATGTCATTGTAGAGGCTCAGTTTGATGGCAGCGACTCAGAAGATGGACATGGC c.540
S P D V I V E A Q F D G S D S E D G H G p.180
. . . . . . g.131138
ATCACACAAAATGTGCTGGTTGATGGTGTTAAGAAACTCTCAGTTTGTGTTTCTGAGAAA c.600
I T Q N V L V D G V K K L S V C V S E K p.200
| 07 . . . . . . g.174095
G | GAAGAGAGGATGGTGATGCACCGGTTACAAAAGATGAGACCACCTGCATTTCACAAGAC c.660
G | R E D G D A P V T K D E T T C I S Q D p.220
. . . . | 08 . . g.179907
ACAAGAGCTTTATCGGAGAAATCCCTGCAAAGATCAGCAAAG | GTGGTTTACATCTTGGAG c.720
T R A L S E K S L Q R S A K | V V Y I L E p.240
. . . . . . g.179967
AAAAAACATTCTCGAGCAGCAACCGGCTTCCTCAAACTCTTGGCTGATAAGAACAGCGAA c.780
K K H S R A A T G F L K L L A D K N S E p.260
. . . . . . g.180027
CTGTTTAGGAAATACGCCCTGTTTTCTCCCTCAGACCACCGAGTGCCTAGAATTTATGTG c.840
L F R K Y A L F S P S D H R V P R I Y V p.280
. . . . . . g.180087
CCTCTCAAGGACTGTCCCCAGGACTTTGTGGCACGGCCTAAAGATTATGCCAACACACTG c.900
P L K D C P Q D F V A R P K D Y A N T L p.300
. . . . . | 09 . g.206886
TTCATCTGCCGCATTGTGGACTGGAAGGAGGACTGCAATTTTGCCCTGGG | GCAGCTGGCT c.960
F I C R I V D W K E D C N F A L G | Q L A p.320
. . . . . . g.206946
AAGAGTCTTGGGCAGGCTGGTGAAATTGAGCCTGAAACAGAAGGAATACTAACAGAGTAT c.1020
K S L G Q A G E I E P E T E G I L T E Y p.340
. . . . . . g.207006
GGCGTGGATTTCTCTGATTTCTCTTCAGAAGTTCTAGAATGTCTTCCTCAAGGCCTGCCA c.1080
G V D F S D F S S E V L E C L P Q G L P p.360
. . . . | 10 . . g.253759
TGGACAATTCCACCAGAGGAGTTCAGCAAGAGAAGGGATTTAAG | AAAAGACTGTATCTTC c.1140
W T I P P E E F S K R R D L R | K D C I F p.380
. . . . . . g.253819
ACCATTGACCCATCAACCGCCCGAGACCTCGATGATGCCCTCTCCTGCAAGCCACTCGCT c.1200
T I D P S T A R D L D D A L S C K P L A p.400
| 11 . . . . . . g.282006
GACG | GCAACTTCAAAGTGGGAGTTCACATTGCTGACGTGAGTTACTTTGTTCCGGAGGGA c.1260
D G | N F K V G V H I A D V S Y F V P E G p.420
. . . . . | 12. g.292659
TCTGATCTGGATAAAGTGGCTGCCGAGAGGGCTACAAGCGTCTACTTGGTTCAAAAG | GTG c.1320
S D L D K V A A E R A T S V Y L V Q K | V p.440
. . . . . . g.292719
GTCCCCATGCTTCCCAGGCTGCTGTGTGAGGAGCTGTGCAGCCTCAACCCCATGTCCGAC c.1380
V P M L P R L L C E E L C S L N P M S D p.460
. . . . | 13 . . g.306639
AAGCTGACCTTCTCTGTGATCTGGACACTGACTCCAGAGGGCAAG | ATCCTTGATGAATGG c.1440
K L T F S V I W T L T P E G K | I L D E W p.480
. . . . . . g.306699
TTTGGCCGGACCATCATCCGCTCCTGCACCAAACTTAGCTACGAGCATGCACAGAGCATG c.1500
F G R T I I R S C T K L S Y E H A Q S M p.500
. . . . . . g.306759
ATTGAAAGCCCAACTGAGAAAATCCCTGCGAAAGAGCTGCCCCCCATTTCCCCAGAGCAT c.1560
I E S P T E K I P A K E L P P I S P E H p.520
. . . . . . g.306819
AGCAGCGAGGAGGTACACCAGGCCGTCTTGAATCTCCACGGAATTGCCAAGCAGTTACGC c.1620
S S E E V H Q A V L N L H G I A K Q L R p.540
. . . | 14 . . g.343478
CAGCAGCGCTTTGTGGACGGCGCACTTCGTTTGGATCAG | CTAAAGCTTGCTTTCACTCTG c.1680
Q Q R F V D G A L R L D Q | L K L A F T L p.560
. . . . . | 15 g.373231
GACCACGAGACCGGATTGCCTCAAGGATGTCATATCTATGAGTACCGCGAGAGCAACAA | G c.1740
D H E T G L P Q G C H I Y E Y R E S N K | p.580
. . . . . . g.373291
CTCGTGGAGGAGTTCATGCTCTTGGCCAACATGGCAGTGGCCCACAAGATCCACCGCGCC c.1800
L V E E F M L L A N M A V A H K I H R A p.600
. . . . . . g.373351
TTCCCCGAGCAGGCCCTGCTGCGCCGGCACCCCCCGCCCCAAACAAGGATGCTCAGTGAC c.1860
F P E Q A L L R R H P P P Q T R M L S D p.620
. . . . . . g.373411
CTGGTGGAATTCTGCGACCAGATGGGGCTGCCCGTGGACTTCAGCTCCGCAGGAGCCCTC c.1920
L V E F C D Q M G L P V D F S S A G A L p.640
| 16 . . . . . . g.374164
AAT | AAAAGCCTGACCCAAACATTTGGAGATGACAAGTACTCACTGGCCCGCAAGGAGGTG c.1980
N | K S L T Q T F G D D K Y S L A R K E V p.660
. . . | 17 . . . g.377287
CTCACCAACATGTGCTCCCGGCCCATGCAG | ATGGCACTGTACTTCTGCTCGGGGCTGCTG c.2040
L T N M C S R P M Q | M A L Y F C S G L L p.680
. . . . . . g.377347
CAGGACCCAGCGCAGTTCCGGCACTACGCGCTCAATGTGCCCCTGTACACACACTTCACC c.2100
Q D P A Q F R H Y A L N V P L Y T H F T p.700
. . . . . | 18 g.377788
TCGCCCATCCGCCGCTTTGCCGACGTCCTGGTGCACCGCCTCCTGGCTGCCGCGTTAG | GC c.2160
S P I R R F A D V L V H R L L A A A L G | p.720
. . . . . . g.377848
TATAGGGAGCGACTAGACATGGCGCCCGATACCCTGCAGAAACAGGCGGACCACTGTAAC c.2220
Y R E R L D M A P D T L Q K Q A D H C N p.740
. . . . . . g.377908
GACCGCCGCATGGCGTCCAAGCGCGTGCAGGAGCTCAGTACCAGTCTCTTCTTTGCTGTT c.2280
D R R M A S K R V Q E L S T S L F F A V p.760
| 19 . . . . . g.378099
CTGGTCAAG | GAGAGTGGCCCCCTGGAGTCAGAAGCCATGGTGATGGGCATCCTGAAGCAA c.2340
L V K | E S G P L E S E A M V M G I L K Q p.780
. . . . . | 20 . g.379196
GCCTTCGACGTGCTGGTGCTGCGCTACGGCGTGCAGAAGCGCATCTACTGCAAC | GCACTG c.2400
A F D V L V L R Y G V Q K R I Y C N | A L p.800
. . . . . . g.379256
GCCCTGCGGTCCCACCACTTCCAGAAGGTGGGCAAGAAGCCGGAACTCACGCTGGTCTGG c.2460
A L R S H H F Q K V G K K P E L T L V W p.820
. . . | 21 . . . g.379910
GAGCCTGAGGACATGGAGCAGGAGCCAGCACAGCAG | GTCATCACCATCTTCAGCCTGGTG c.2520
E P E D M E Q E P A Q Q | V I T I F S L V p.840
. . . . . . g.379970
GAGGTGGTCCTGCAGGCAGAGTCCACAGCCCTCAAGTACAGCGCCATCCTGAAGCGGCCA c.2580
E V V L Q A E S T A L K Y S A I L K R P p.860
. . . . . . g.380030
GGCACCCAGGGCCACCTGGGCCCTGAGAAGGAGGAGGAGGAGTCTGACGGTGAGCCCGAG c.2640
G T Q G H L G P E K E E E E S D G E P E p.880
. g.380048
GACTCAAGCACCAGCTGA c.2658
D S S T S X p.885
. . . . . . g.380108
gctccaccagccgcctgccccgcctgccccgcctgcctgtcccgccacactggctttagg c.*60
. . . . . . g.380168
acctgttgacacggaggggggtttttaatttggtttttaacaactcaggggtttgttttt c.*120
. . . . . . g.380228
atttttatttaatttttgcagctcaacttttaaacaaactgcaggggagagggtggggct c.*180
. . . . . . g.380288
ggaaggaaggctgaggcctggtcagcagtgaccccagcagagcaggccccagtcctcctg c.*240
. . . . . . g.380348
ggaggctggccccccttttttctgggccctactgccctcctctgcccaggaaatgggggg c.*300
. . . . . . g.380408
gtttcagcaactcagtgtcacagaataaaatcaagtgtggagtgccatctggtgtgtagg c.*360
. . . . . . g.380468
gcgcctctgggaagcctgggcagcagaatgccccttgcacccagggcaagggacccagtt c.*420
. . . . . . g.380528
caggcttcacccctcgctgctgagccgatgtcaacacctggaactttcctgtcagttcca c.*480
. . . . . . g.380588
acacgattcagagctggctgcctggcagatgattgatactggagtctcattctgcctgat c.*540
. . g.380616
taaaaatggaattagtatgcaacactga c.*568
(downstream sequence)
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