(used for variant description)
(last modified February 7, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_022720.6 in the DGCR8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering DGCR8 transcript NM_022720.6.
(upstream sequence)
g.5009
aggcccgcc c.-421
. . . . . . g.5069
ctccgctcgcccggcgcggcaggcgggtgccggcgaccggagagcctggacaggctttcc c.-361
. . . . . . g.5129
agatggctgcggcggtcggtcggtgaggctttcccggctgtggtttggctgcgggcggct c.-301
. . . | 02 . . . g.10492
tgggcagcccgcgggcgcctcag | gtagaagaagaaaggtgccactccggcatgaagacag c.-241
. . . . . . g.10552
actcgcttagtcgccagtcacttaagctgagtgcattgtgatttccaataattgaggcag c.-181
. . . . . . g.10612
tggttctaaaagctgtctacattaatgaaaagagcaatgtggccagcttgactaagccgc c.-121
. . . . . . g.10672
cagcgcacagcgcggcaggacgcgcccgggtctcagcggacttgtgcatgttagctgtgt c.-61
. . . . . . g.10732
agatttatgtgagggcttgtaaaactctggtcttgtaaactagtcttaagcgcttttaat c.-1
. . . . . . g.10792
ATGGAGACAGATGAGAGCCCCTCTCCGCTCCCGTGTGGGCCCGCAGGAGAAGCGGTGATG c.60
M E T D E S P S P L P C G P A G E A V M p.20
. . . . . . g.10852
GAGAGCCGAGCTCGCCCCTTCCAAGCGCTGCCCCGTGAGCAGTCTCCACCACCTCCCCTG c.120
E S R A R P F Q A L P R E Q S P P P P L p.40
. . . . . . g.10912
CAAACGTCCAGTGGTGCAGAGGTAATGGACGTTGGCTCTGGTGGTGATGGACAGTCCGAA c.180
Q T S S G A E V M D V G S G G D G Q S E p.60
. . . . . . g.10972
CTCCCTGCTGAGGACCCCTTCAACTTCTACGGAGCTTCTCTTCTCTCCAAAGGATCCTTC c.240
L P A E D P F N F Y G A S L L S K G S F p.80
. . . . . . g.11032
TCTAAGGGCCGCCTCCTCATAGACCCGAACTGTAGTGGCCACAGCCCGCGCACCGCCCGG c.300
S K G R L L I D P N C S G H S P R T A R p.100
. . . . . . g.11092
CACGCACCTGCGGTCCGGAAGTTCTCCCCTGACCTTAAGTTGCTTAAGGATGTAAAGATT c.360
H A P A V R K F S P D L K L L K D V K I p.120
. . . . . . g.11152
AGCGTGAGCTTTACCGAGAGCTGCAGGAGTAAGGACAGGAAGGTGCTGTACACAGGAGCA c.420
S V S F T E S C R S K D R K V L Y T G A p.140
. . . . . . g.11212
GAGCGCGACGTGCGGGCGGAGTGCGGTCTGCTCCTTAGCCCTGTCAGTGGGGACGTGCAT c.480
E R D V R A E C G L L L S P V S G D V H p.160
. . . . . . g.11272
GCTTGTCCCTTTGGCGGGAGTGTTGGTGACGGGGTAGGCATAGGGGGTGAGAGTGCTGAT c.540
A C P F G G S V G D G V G I G G E S A D p.180
. . . . . . g.11332
AAGAAGGATGAGGAGAATGAGCTGGATCAGGAAAAGAGAGTGGAGTATGCAGTGCTCGAT c.600
K K D E E N E L D Q E K R V E Y A V L D p.200
. . . . . . g.11392
GAGTTAGAAGATTTTACTGACAATTTGGAGCTAGATGAAGAAGGAGCAGGCGGGTTCACG c.660
E L E D F T D N L E L D E E G A G G F T p.220
. . . . . . g.11452
GCTAAAGCAATCGTTCAGAGAGACAGAGTGGATGAAGAGGCCTTGAATTTCCCCTACGAG c.720
A K A I V Q R D R V D E E A L N F P Y E p.240
| 03 . . . . . . g.11990
| GATGACTTTGACAACGATGTGGATGCTCTGCTGGAAGAAGGCCTTTGTGCCCCCAAAAAG c.780
| D D F D N D V D A L L E E G L C A P K K p.260
. . . . . . g.12050
AGGCGAACAGAGGAAAAATATGGCGGAGACAGCGACCATCCGTCCGATGGAGAGACAAGT c.840
R R T E E K Y G G D S D H P S D G E T S p.280
. . . . | 04 . . g.14457
GTGCAGCCGATGATGACCAAGATTAAAACAGTGCTCAAAA | GTCGTGGCCGCCCACCTACA c.900
V Q P M M T K I K T V L K S | R G R P P T p.300
. . . . . . g.14517
GAGCCGCTGCCCGACGGGTGGATCATGACATTCCATAACTCTGGAGTCCCGGTGTACCTA c.960
E P L P D G W I M T F H N S G V P V Y L p.320
. . . . . . g.14577
CACAGAGAGTCTCGGGTGGTCACCTGGTCCAGGCCATACTTCTTGGGAACGGGAAGCATA c.1020
H R E S R V V T W S R P Y F L G T G S I p.340
| 05 . . . . . . g.14801
CGG | AAACACGACCCTCCTCTGAGTAGCATCCCTTGTCTGCATTATAAGAAAATGAAGGAC c.1080
R | K H D P P L S S I P C L H Y K K M K D p.360
. . . . . . g.14861
AACGAGGAACGGGAGCAAAGCAGTGACCTCACCCCTAGTGGGGATGTGTCCCCCGTCAAG c.1140
N E E R E Q S S D L T P S G D V S P V K p.380
. . . . . . g.14921
CCCCTGAGCCGATCTGCAGAGCTGGAGTTTCCCCTGGATGAGCCTGACTCTATGGGTGCT c.1200
P L S R S A E L E F P L D E P D S M G A p.400
. . . . . . g.14981
GACCCGGGGCCCCCGGACGAGAAAGACCCACTAGGGGCTGAGGCAGCCCCTGGGGCCCTG c.1260
D P G P P D E K D P L G A E A A P G A L p.420
. . . . | 06 . . g.16217
GGGCAGGTGAAGGCCAAAGTCGAGGTGTGCAAAGATGAATCCGTTG | ATCTCGAGGAATTT c.1320
G Q V K A K V E V C K D E S V D | L E E F p.440
. . . . . . g.16277
CGAAGCTACCTGGAGAAGCGTTTTGACTTTGAGCAAGTTACTGTGAAAAAATTCAGGACT c.1380
R S Y L E K R F D F E Q V T V K K F R T p.460
. . . . . . g.16337
TGGGCTGAGCGGCGGCAATTCAATCGGGAAATGAAGCGGAAGCAGGCGGAGTCCGAGAGG c.1440
W A E R R Q F N R E M K R K Q A E S E R p.480
. . . . . . g.16397
CCCATCTTGCCAGCCAATCAGAAGCTCATTACTTTATCAGTGCAAGATGCACCCACAAAG c.1500
P I L P A N Q K L I T L S V Q D A P T K p.500
| 07 . . . . . . g.16693
AAAG | AGTTTGTTATTAACCCCAACGGGAAATCCGAGGTCTGCATCCTGCACGAGTACATG c.1560
K E | F V I N P N G K S E V C I L H E Y M p.520
. . . . | 08 . . g.17591
CAGCGTGTCCTCAAGGTCCGCCCTGTCTATAATTTCTTTGAATGTG | AGAACCCAAGTGAG c.1620
Q R V L K V R P V Y N F F E C E | N P S E p.540
. . . . . . g.17651
CCTTTTGGTGCCTCGGTGACCATTGATGGTGTGACTTACGGATCTGGAACTGCAAGCAGC c.1680
P F G A S V T I D G V T Y G S G T A S S p.560
. . | 09 . . . . g.19516
AAAAAACTTGCGAAGAATAAAGCTG | CCCGAGCTACACTGGAAATCCTCATCCCTGACTTT c.1740
K K L A K N K A A | R A T L E I L I P D F p.580
. . . . | 10 . g.30957
GTTAAACAGACCTCTGAAGAGAAGCCCAAAGACAGTGAAGAACTCGAG | TATTTTAACCAC c.1800
V K Q T S E E K P K D S E E L E | Y F N H p.600
. . . . . . g.31017
ATCAGCATCGAGGACTCGCGGGTCTACGAGCTGACCAGCAAGGCTGGGCTGTTGTCTCCA c.1860
I S I E D S R V Y E L T S K A G L L S P p.620
. . | 11 . . . g.31391
TATCAGATCCTCCACGAGTGCCTTAAAAG | AAACCATGGGATGGGTGACACGTCTATCAAG c.1920
Y Q I L H E C L K R | N H G M G D T S I K p.640
. . . . . . g.31451
TTTGAAGTGGTTCCTGGGAAAAACCAGAAGAGTGAATACGTCATGGCGTGTGGCAAGCAC c.1980
F E V V P G K N Q K S E Y V M A C G K H p.660
. | 12 . . . . . g.32083
ACAGTGCGCGGGTGGT | GTAAGAACAAGAGAGTTGGAAAGCAGTTAGCCTCACAGAAGATC c.2040
T V R G W C | K N K R V G K Q L A S Q K I p.680
. . . . . . g.32143
CTTCAGCTGCTGCACCCACATGTCAAGAACTGGGGGTCTTTACTGCGCATGTATGGCCGT c.2100
L Q L L H P H V K N W G S L L R M Y G R p.700
. . | 13 . . . . g.33694
GAGAGCAGCAAGATGGTCAAGCAG | GAGACATCGGACAAGAGTGTGATTGAGCTGCAGCAG c.2160
E S S K M V K Q | E T S D K S V I E L Q Q p.720
. . . . . . g.33754
TATGCCAAGAAGAACAAGCCCAACCTGCACATCCTCAGCAAGCTCCAAGAGGAGATGAAG c.2220
Y A K K N K P N L H I L S K L Q E E M K p.740
. | 14 . . . . g.34835
AGGCTAGCTGAGGAAAGG | GAGGAGACTCGAAAGAAGCCCAAGATGTCCATTGTGGCGTCC c.2280
R L A E E R | E E T R K K P K M S I V A S p.760
. . . . g.34877
GCCCAGCCTGGCGGTGAGCCCCTGTGCACCGTGGACGTGTGA c.2322
A Q P G G E P L C T V D V X p.773
. . . . . . g.34937
gggaggtggcacgggccagggcgcgggggccgccagccgcacttctgaggagaccagcag c.*60
. . . . . . g.34997
tcatgcatcgtgcaccacagtgtcaggcctccaacccacgctccttccctgtggccaacc c.*120
. . . . . . g.35057
tgtgggcccggccttagggtggaggctttagtgtacagggacagccatggccacacagca c.*180
. . . . . . g.35117
cacatgtggagcagcggctctccctggaaagctccaggcctgaatggatggactcagcga c.*240
. . . . . . g.35177
ctgcaccagtggcagctggtgactgtggacagtggtggaccctgcttctgtgcacctgct c.*300
. . . . . . g.35237
gcaggctctttttatgaaggctttcatgaattttagtatgtaatacgcactgacgacaca c.*360
. . . . . . g.35297
tgatgcttggatgacagatgagaggggatggctgagtcctgtggctggcccgtgatgcca c.*420
. . . . . . g.35357
ggtggcccatgtgcccagggcgcctgcagggctgctacagggacctggtcaggaggtgca c.*480
. . . . . . g.35417
catggtgccctgccctcacccaccctctgtgtttccccttctttgaaaaggtagaagaga c.*540
. . . . . . g.35477
aaggaatattttaaacctttttggcttaaacagaattttagcatcagaactagctttctg c.*600
. . . . . . g.35537
ggattggaggcaaaccatcaaggtggtccctctccagtctggacacgatgccagcaagga c.*660
. . . . . . g.35597
tgacgtcctgccacctcctggagttaccctggcctcctagggtccctttttctgatgaag c.*720
. . . . . . g.35657
tcttaattccctaaaagcgcctctttggacactgaggccctctctgcctttcctggcctc c.*780
. . . . . . g.35717
cggcaacagttttttacaaagattttttgcagtcgagtccatatgtccacccattgattt c.*840
. . . . . . g.35777
ttaaagcttttgtgatattttagcattttgaaagactttcacagtgagagtagaaggtag c.*900
. . . . . . g.35837
atttggaatcatgcattttagcaagtggacttgttgaaacaggaagcaagggccttcagt c.*960
. . . . . . g.35897
gtagcccattcttgatccagagctgttgcctgtgacagcggtttctctggatgtcaaagg c.*1020
. . . . . . g.35957
cagctgcctggtgcccagcttgcttctcgactggtggcccctatgggtgggtgtgcgatg c.*1080
. . . . . . g.36017
gaaatgtgttcctgccggagtctgaggcaccagggtgtgctcaaaggctggccctggtgg c.*1140
. . . . . . g.36077
tggactggcacctgtgcagagtgccgtgtgcttgtggtgcgccatctgaagcaagagtcc c.*1200
. . . . . . g.36137
agcgttctgccgtgtctgtcccccaccatgccccctacaggcggtactgatggcgctttt c.*1260
. . . . . . g.36197
ttttttttttctgtcaggaaaacaatgttggcctgtgggccgcccacaacatatccttcc c.*1320
. . . . . . g.36257
ctcactacctgtgtgaccaaggttggcttctgttgacctttaaaaaagaaaccctcaact c.*1380
. . . . . . g.36317
caaattgctataattagacacttgcttctgtcttgcctcctgtctgcagctgtgaatagt c.*1440
. . . . . . g.36377
catttgactgtgactgttgcccttagccagccagatgcgcctgtgaaccaaagcttcgtg c.*1500
. . . . . . g.36437
cacatgtgttcccctaaaggttggggagcctcgctgtgtcttgctgttcccaggcaccac c.*1560
. . . . . . g.36497
cacagcaggtgctgccatactcttgtggtctctgtgcgccccccccccccccccacccgt c.*1620
. . . . . . g.36557
ctgccaagcatgggtatgaatcgtgcacacagccatgcttcaaggccggggcaggggagc c.*1680
. . . . . . g.36617
ctgtgctgatgccatccagggcactgggctgtgcctggaaggcgagccttgattgtctga c.*1740
. . g.36646
acacataaagcaaactgtccagaagggaa c.*1769
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 28d
©2004-2023 Leiden University Medical Center