(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001010888.3 in the ZC3H12B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021264.1, covering ZC3H12B transcript NM_001010888.3.
(upstream sequence)
g.5007
catgtgg c.-61
. . . . . . g.5067
attccaagcaggctaaaaagaaaaagaactgattagacctcagacgacccactaaacggg c.-1
. . . . . . g.5127
ATGACGGCCACAGCTGAGGTAGAGACACCAAAAATGGAGAAGAGTGCCTCCAAGGAAGAG c.60
M T A T A E V E T P K M E K S A S K E E p.20
. . . . . . g.5187
AAGCAGCAGCCTAAGCAGGACAGCACAGAGCAGGGCAATGCTGATTCTGAAGAGTGGATG c.120
K Q Q P K Q D S T E Q G N A D S E E W M p.40
. . . . . . g.5247
AGCTCTGAGAGTGACCCTGAACAGATAAGCCTTAAGAGTAGCGACAACAGCAAGAGCTGC c.180
S S E S D P E Q I S L K S S D N S K S C p.60
. . . . . . g.5307
CAACCTAGGGATGGTCAGTTGAAGAAAAAGGAGATGCACTCCAAGCCACACCGCCAGCTC c.240
Q P R D G Q L K K K E M H S K P H R Q L p.80
. . . . . . g.5367
TGTCGATCACCCTGCCTAGATCGTCCAAGTTTCTCCCAGAGCAGCATTTTACAGGATGGT c.300
C R S P C L D R P S F S Q S S I L Q D G p.100
. . . . . . g.5427
AAACTTGACTTGGAGAAGGAATACCAAGCTAAGATGGAGTTTGCGCTAAAGCTGGGCTAT c.360
K L D L E K E Y Q A K M E F A L K L G Y p.120
. . . . . . g.5487
GCAGAGGAACAGATTCAATCAGTGCTAAACAAGCTGGGCCCAGAATCACTTATTAATGAT c.420
A E E Q I Q S V L N K L G P E S L I N D p.140
. . . . . . g.5547
GTATTGGCAGAGCTTGTCAGACTTGGGAACAAAGGTGATTCAGAAGGGCAGATCAACTTG c.480
V L A E L V R L G N K G D S E G Q I N L p.160
. . . . . . g.5607
AGTCTGTTAGTGCCTCGTGGGCCCAGCTCCAGAGAGATTGCAAGCCCTGAATTGTCTCTT c.540
S L L V P R G P S S R E I A S P E L S L p.180
. . . . . . g.5667
GAAGATGAAATAGATAACAGTGACAATTTGAGGCCAGTTGTCATTGATGGAAGTAATGTG c.600
E D E I D N S D N L R P V V I D G S N V p.200
| 02 . . . . . g.13449
GCAATGAG | CCATGGGAATAAAGAAGAATTCTCCTGCAGAGGAATACAACTTGCTGTGGAT c.660
A M S | H G N K E E F S C R G I Q L A V D p.220
. . . . . . g.13509
TGGTTTCTAGATAAAGGCCATAAAGATATTACTGTATTTGTGCCTGCATGGAGAAAGGAG c.720
W F L D K G H K D I T V F V P A W R K E p.240
. . | 03 . . . g.15296
CAATCCCGCCCTGATGCACCAATTACAG | ATCAAGATATTCTACGAAAACTGGAGAAGGAA c.780
Q S R P D A P I T D | Q D I L R K L E K E p.260
. . . . . . g.15356
AAGATTCTTGTCTTCACACCATCCCGAAGAGTCCAAGGCAGGAGGGTTGTCTGCTATGAT c.840
K I L V F T P S R R V Q G R R V V C Y D p.280
. . . . . . g.15416
GACCGGTTCATAGTCAAACTGGCTTTTGATTCTGATGGCATCATTGTGTCCAATGATAAC c.900
D R F I V K L A F D S D G I I V S N D N p.300
. . . . . . g.15476
TACCGAGACCTTCAAGTTGAAAAGCCAGAATGGAAGAAGTTTATAGAGGAGCGGTTGCTG c.960
Y R D L Q V E K P E W K K F I E E R L L p.320
. . | 04 . . . . g.16185
ATGTATTCTTTTGTGAATGACAA | ATTTATGCCTCCAGATGATCCATTAGGACGCCACGGC c.1020
M Y S F V N D K | F M P P D D P L G R H G p.340
. . . . . . g.16245
CCAAGCCTTGAAAATTTCTTAAGAAAGAGACCCATTGTTCCTGAGCATAAGAAGCAACCA c.1080
P S L E N F L R K R P I V P E H K K Q P p.360
. | 05 . . . . . g.18104
TGTCCTTATG | GCAAAAAATGCACCTACGGCCACAAGTGCAAATACTACCATCCGGAGCGG c.1140
C P Y G | K K C T Y G H K C K Y Y H P E R p.380
. . . . . . g.18164
GCCAACCAACCCCAGCGTTCGGTGGCTGATGAGCTCCGCATCAGTGCCAAACTGTCCACA c.1200
A N Q P Q R S V A D E L R I S A K L S T p.400
. . . . . . g.18224
GTGAAAACTATGAGTGAAGGCACCCTGGCCAAGTGTGGCACAGGGATGTCTAGTGCCAAA c.1260
V K T M S E G T L A K C G T G M S S A K p.420
. . . . . . g.18284
GGTGAGATAACCTCAGAGGTCAAACGTGTGGCCCCCAAGCGCCAATCAGATCCCAGCATC c.1320
G E I T S E V K R V A P K R Q S D P S I p.440
. . . . . . g.18344
CGGTCTGTGGCTATGGAGCCTGAGGAATGGCTGTCCATTGCCCGTAAGCCTGAGGCTAGT c.1380
R S V A M E P E E W L S I A R K P E A S p.460
. . . . . . g.18404
TCTGTCCCCTCGCTTGTGACTGCCCTAAGTGTTCCCACAATCCCACCCCCCAAAAGCCAT c.1440
S V P S L V T A L S V P T I P P P K S H p.480
. . . . . . g.18464
GCAGTGGGTGCACTCAACACCCGTTCGGCCAGCAGCCCAGTGCCAGGATCCTCCCATTTC c.1500
A V G A L N T R S A S S P V P G S S H F p.500
. . . . . . g.18524
CCCCACCAGAAGGCCTCTTTGGAGCATATGGCCAGCATGCAGTATCCTCCCATCTTGGTT c.1560
P H Q K A S L E H M A S M Q Y P P I L V p.520
. . . . . . g.18584
ACCAACAGCCATGGGACCCCTATTAGCTATGCTGAGCAATACCCAAAGTTTGAATCCATG c.1620
T N S H G T P I S Y A E Q Y P K F E S M p.540
. . . . . . g.18644
GGGGACCATGGCTACTATTCAATGTTAGGTGACTTCTCCAAACTGAACATCAACAGCATG c.1680
G D H G Y Y S M L G D F S K L N I N S M p.560
. . . . . . g.18704
CATAACCGAGAGTATTACATGGCTGAAGTAGACCGGGGGGTGTATGCCCGGAATCCTAAC c.1740
H N R E Y Y M A E V D R G V Y A R N P N p.580
. . . . . . g.18764
CTCTGTTCTGACAGCCGTGTGAGCCATACCAGGAATGACAACTATTCCTCTTACAACAAC c.1800
L C S D S R V S H T R N D N Y S S Y N N p.600
. . . . . . g.18824
GTGTATTTGGCTGTAGCTGATACCCATCCTGAAGGCAATTTGAAGCTGCACCGCTCAGCA c.1860
V Y L A V A D T H P E G N L K L H R S A p.620
. . . . . . g.18884
TCCCAGAACCGACTTCAGCCTTTTCCTCATGGTTACCATGAAGCCTTAACACGAGTGCAG c.1920
S Q N R L Q P F P H G Y H E A L T R V Q p.640
. . . . . . g.18944
AGCTATGGCCCAGAGGATTCTAAGCAAGGCCCCCACAAACAGTCAGTCCCCCACTTAGCT c.1980
S Y G P E D S K Q G P H K Q S V P H L A p.660
. . . . . . g.19004
CTGCATGCCCAGCACCCATCAACTGGAACACGTTCCAGCTGTCCTGCAGACTACCCCATG c.2040
L H A Q H P S T G T R S S C P A D Y P M p.680
. . . . . . g.19064
CCTCCCAATATCCATCCTGGGGCAACCCCCCAGCCAGGCCGTGCCCTGGTGATGACTCGG c.2100
P P N I H P G A T P Q P G R A L V M T R p.700
. . . . . . g.19124
ATGGATAGCATTTCCGACTCCCGCCTCTATGAGAGCAACCCCGTGAGGCAAAGACGACCT c.2160
M D S I S D S R L Y E S N P V R Q R R P p.720
. . . . . . g.19184
CCCCTGTGCCGGGAACAGCATGCCAGCTGGGACCCGCTGCCCTGTACAACTGACTCCTAT c.2220
P L C R E Q H A S W D P L P C T T D S Y p.740
. . . . . . g.19244
GGCTACCACTCCTATCCCTTGAGTAACAGCCTCATGCAACCATGTTATGAGCCAGTCATG c.2280
G Y H S Y P L S N S L M Q P C Y E P V M p.760
. . . . . . g.19304
GTACGGAGCGTGCCTGAAAAGATGGAGCAGCTTTGGAGGAATCCTTGGGTTGGAATGTGC c.2340
V R S V P E K M E Q L W R N P W V G M C p.780
. . . . . . g.19364
AATGATTCCAGGGAGCATATGATCCCAGAACACCAGTATCAGACCTACAAGAACCTCTGC c.2400
N D S R E H M I P E H Q Y Q T Y K N L C p.800
. . . . . . g.19424
AATATTTTCCCTTCTAACATCGTCCTTGCAGTGATGGAGAAGAATCCCCACACAGCAGAT c.2460
N I F P S N I V L A V M E K N P H T A D p.820
. . . . . g.19475
GCCCAGCAACTGGCAGCCTTGATTGTTGCTAAGCTTAGGGCTGCACGTTGA c.2511
A Q Q L A A L I V A K L R A A R X p.836
. . . . . . g.19535
tatgacatagtacttatttctttatacaaatatgaatattaatactaataatacactaat c.*60
. . . . . . g.19595
acaataattatagtaactaataatttgtgttgcgctttacaagttagagtgtttatatca c.*120
. . . . . . g.19655
tttaagcgcttaacaaccctgtgaggtacgtcttactaacatcctcttttatagagaagg c.*180
. . . . . . g.19715
aaggtgaaggtcagtgaaattaagtggctagccagggtcacactgctagcaaatgactaa c.*240
. . . . . . g.19775
gtcaagacacacacccaagtcctctaaatccaagtcccatgcccctttgcactgcaccat c.*300
. . . . . . g.19835
gcaggtaatggaggacaaaacccagggggagaggtctagatgtaagaaatcccagaggat c.*360
. . . . . . g.19895
tccattaccagagttttcctttttctcttttcgtttctttctttctttctttattttttt c.*420
. . . . . . g.19955
tttttgagacagaatctcactctgttacacaggctggagtgcagtggcactatctctgct c.*480
. . . . . . g.20015
cactgcaacctccacctccagggttcaagtgattctatggcctcagcctcccaggtagct c.*540
. . . . . . g.20075
gggattacaggcgtgcaccaccatgcccagctaatttttgtatttttagtagagacgtgg c.*600
. . . . . . g.20135
tttcaccgtgttggccaggctggtctcaaactcctggcctcaagtgatccgcccaccttg c.*660
. . . . . . g.20195
gcctcctaaagtgctgggattacaggtgtgagccactgcgcccagcctaccagagttttc c.*720
. . . . . . g.20255
gtagtcacatattctatattacaaagtatggatgatatatccaatttagagagcaaaagc c.*780
. . . . . . g.20315
atcaggatcagatcatatgttgaattaaccttttaggttttttctaatagaaatatttaa c.*840
. . . . . . g.20375
agctatttaaaagtaaatgcatactttattgcatggatatctgatcactcaatctatatt c.*900
. . . . . . g.20435
aatgaaactatagggtcacattgaagcttctagaactatattttaaagctattattagca c.*960
. . . . . . g.20495
attatattgcatgtatgaatatatatatttggtttgagatgtgtgtgtatctctgtataa c.*1020
. . . . . . g.20555
ccttttatatagtgataatgagagggtaggctctacacagtccttcgtctatagctgtat c.*1080
. . . . . . g.20615
aggtcactaatctgacttgatgattttaagtcacatttcatagttttaactagttatgag c.*1140
. . . . . . g.20675
agagaaattatatggcaatatttgaacattgctttcttaggcaccagagcaaagcaactc c.*1200
. . . . . . g.20735
tgtttcctttgcacattttacctgccaacatttattaacagttcttaccttccaagtctc c.*1260
. . . . . . g.20795
ttcaccttagcaaattagggatcaggttgcagtcttctgcagagaaactgatggttaagc c.*1320
. . . . . . g.20855
tcaagttccaagcatagtatgtgtgtgctacacaagctcagaagagtttgacaaggacca c.*1380
. . . . . . g.20915
ggggacttactaccacaatccacttcccttatcccaggagagatggccaaacccatgtgg c.*1440
. . . . . . g.20975
cattaaatggtgaataaaaaagcttcactcaaggagggactattggatgctctttggact c.*1500
. . . . . . g.21035
tctgacctatgcagtattcaacatcattggatgaaatgtaatggaggacagtgcacagcc c.*1560
. . . . . . g.21095
atgtatccactttctcttcctgtccaccctttgggtaataaggtcaatcattggtggaac c.*1620
. . . . . . g.21155
agaatttctctaggaaacaaaaccaggggattttatttgtggaaaaaggaagtttccaaa c.*1680
. . . . . . g.21215
aggggatactgcatctttactaatagctggctcagttactcactttaaatccatgcaaag c.*1740
. . . . . . g.21275
agtgcacttgctgttaaataattgttaaatgagttattagaaggcaggacttttggtttg c.*1800
. . . . . . g.21335
ggcgacaccatttgcgcaacttgtatcttgctcagggtggaaaacttcatagctaaatgc c.*1860
. . . . . . g.21395
ctctagaagaggtgtttattgttttttttaagctgcactaaatgaattccctttttgaat c.*1920
. . . . . . g.21455
ccattgtatatttcaatatttcgaaccatgatcagctcactatttcctgagctggaactt c.*1980
. . . . . . g.21515
gctaacttctatgatcgttttttcatgaaagttgagaaggccgggccttggccttttgtt c.*2040
. . . . . . g.21575
tcttcatgagaaggtgtgacactgcctataaatgtttcttactgtgaaacactctgaatg c.*2100
. . . . . . g.21635
tgaggctgtagtcagggttgtttctggtggtttgacaatggcttgcatgctgctttctgg c.*2160
. . . . . . g.21695
ctttctgtctctgtccaagttgatcaatactgcatcttaaccaatgtttcacttgagtta c.*2220
. . . . . . g.21755
accacagctttacattctatctcctatcttctgatcttcgtataccccagcatattgaaa c.*2280
. . . . . . g.21815
aagagtaaaagtattttctatcaatcaggtagatccacagagtgacagttgccactgcag c.*2340
. . . . . . g.21875
tgcttgctatttcacacaaacaccatttcataccttcaacttcttggactttctaaatcg c.*2400
. . . . . . g.21935
gactcgtgtctaaatcagggtatttgacaatctcagatgatgctactgcctatgtgccag c.*2460
. . . . . . g.21995
ttagttcatcttcctaccaagatcatgaatggcaccacactatccactagctgtacaatt c.*2520
. . . . . . g.22055
tacagagaagcacaagattcatcttgtcacctacaattcgtcttgaacatgttcatattt c.*2580
. . . . . . g.22115
agtactcagaaactgtgtaagctcctcccaatacagaaaatattttttaaggcagcatat c.*2640
. . . . . . g.22175
gtatttctgatttactaaaaacgattgtcattctcctctcattcttctttttggtatgaa c.*2700
. . . . . . g.22235
ccaaaagcggctaggagcaatgcctcaaataaccagaaatgaccttttgttgatacaaat c.*2760
. . . . . . g.22295
tgtatctctttttttcctgattgtatagaaacaaatgtacaaaactcatctgaagctagg c.*2820
. . . . . . g.22355
tttggcactgaattttcaccatgaggtttgtggcactgtgtgtcacagggaagtagctca c.*2880
. . . . . . g.22415
ggggttgtgagggagcttttatttctaaagggcagtagtaatttatagacaaaaacaatt c.*2940
. . . . . . g.22475
tttcaaggcctctttattaccactgcacagctatcatgtgtaaaatttcaagcattatat c.*3000
. . . . . . g.22535
tgcataagttctctttagcctattaaatttaatatgtccttgcaaaagggattttgtgta c.*3060
. . . . . . g.22595
aaaagtgtcagtgttagtgactcatctgcaagaatctacaaatggagctatacaactatg c.*3120
. . . . . . g.22655
aatacataaatacagcatggttcctagttattagagaaacattttctttatattgaggtc c.*3180
. . . . . . g.22715
tacgcacttcttgactttccattttgtctgtaattataaaacagcaaataacaaagaagc c.*3240
. . . . . . g.22775
attgggaccccctcggctgccttgataataaaatcaagcttccttcatgggactaagcat c.*3300
. . . . . . g.22835
gtgtccttcaggatacttacctctaagcactcagcaggggttactacaaagcgttttgtg c.*3360
. . . . . . g.22895
tggttttcaaaaaacagtgtattttgcaagaggtgctttgtaattttaattatttcactg c.*3420
. . . . . . g.22955
attttctgacctcataggaagtctgtgcctgttgaggccttcaattttgtagcttttctg c.*3480
. . . . . . g.23015
attttttttcttctttttgtgattttgttgttgttttcattttgatctaaaggagaagtg c.*3540
. . . . . . g.23075
tgaccccggagtggcatggtcaatccagggcaccctttctgtaagacaactcaaaggaaa c.*3600
. . . . . . g.23135
agaagccttttcaaaggtaatatcgagccattgcactctctcttaaggtgccaggtatgg c.*3660
. . . . . . g.23195
gagaatgacagatgccttatggaaatggtctacaaaacttttcttcttctaagtaataaa c.*3720
. . . . . . g.23255
acacatagcatgattctctctccctctctctctctctctctgcccaccccctgctagttt c.*3780
. . . . . . g.23315
ccaggagaatacttctctaaaattcatttttttctattttggaataaattatctttatac c.*3840
. . . . . . g.23375
agtaattcaaacactgatttccattaacctttggccctgagttttcttctaacatagaag c.*3900
. . . . . . g.23435
agttcattttgagaggcactcagttaccattcaatctgtgctgtaagtatgggactttgt c.*3960
. . . . . . g.23495
acaaatgccctttttgagggccaaaaatttcaatacactttgttctactttgtgaaccag c.*4020
. . . . . . g.23555
gtctggatctgcacagagaaagtaatgctgagctgtccaaagagtccgctcaggtctccc c.*4080
. . . . . . g.23615
tcctaaccctcctctgccttcccctagtttgcttatcctcacgtctgacactgaggagtg c.*4140
. . . . . . g.23675
catagtcttcaactgaaatggcactacagttagttctcattggaaacaaacaagtgtatt c.*4200
. . . . . . g.23735
tctggaacctgctcgtctaaaatagtcaatgcctttgtaaagactcagcatattcaatat c.*4260
. . . . . . g.23795
ctattgtatggtagctagctatatacatagattgactatttttagtcctggtttgtgtat c.*4320
. . . . . . g.23855
tgttgagctatagtagtttgctttatccatttgtgggattaaacaatactgtttaatggt c.*4380
. . . . . . g.23915
tgtaaacttttataaaatctctttgggttttttgtttgacccaaacataatgtaagtctt c.*4440
. . . . . . g.23975
aatgacaaaatacacaaagttaaccagaggtgagtgaaaatatagcccttccccagtttt c.*4500
. . . . . . g.24035
gtctgcccctataatgcacgtgcattgctttgtaatatgctctcgctagcatgaatgtgc c.*4560
. . . . . . g.24095
tatgactacttcatgaggttttgtttcacctataattgtgatggaaaatgctgtattgct c.*4620
. . . . . g.24153
gacaacaatgaactgtaaccacagttatttactgcataaactatttgtgtactaacca c.*4678
(downstream sequence)
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