(used for variant description)
(last modified October 26, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004456.4 in the EZH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032043.1, covering EZH2 transcript NM_004456.4.
(upstream sequence)
. g.5013
ggcggcgcttgat c.-181
. . . . . . g.5073
tgggctgggggggccaaataaaagcgatggcgattgggctgccgcgtttggcgctcggtc c.-121
. . . . . . g.5133
cggtcgcgtccgacacccggtgggactcagaaggcagtggagccccggcggcggcggcgg c.-61
. . . . . . | 02 g.42051
cggcgcgcgggggcgacgcgcgggaacaacgcgagtcggcgcgcgggacgaag | aataatc c.-1
. . . . . . g.42111
ATGGGCCAGACTGGGAAGAAATCTGAGAAGGGACCAGTTTGTTGGCGGAAGCGTGTAAAA c.60
M G Q T G K K S E K G P V C W R K R V K p.20
. . . . . | 03. g.42754
TCAGAGTACATGCGACTGAGACAGCTCAAGAGGTTCAGACGAGCTGATGAAGTAAAG | AGT c.120
S E Y M R L R Q L K R F R R A D E V K | S p.40
. . . . . . g.42814
ATGTTTAGTTCCAATCGTCAGAAAATTTTGGAAAGAACGGAAATCTTAAACCAAGAATGG c.180
M F S S N R Q K I L E R T E I L N Q E W p.60
. . . . . . g.42874
AAACAGCGAAGGATACAGCCTGTGCACATCCTGACTTCTGTGAGCTCATTGCGCGGGACT c.240
K Q R R I Q P V H I L T S V S S L R G T p.80
| 04 . . . . . . g.56653
AGGGAG | TGTTCGGTGACCAGTGACTTGGATTTTCCAACACAAGTCATCCCATTAAAGACT c.300
R E | C S V T S D L D F P T Q V I P L K T p.100
. . . . . . g.56713
CTGAATGCAGTTGCTTCAGTACCCATAATGTATTCTTGGTCTCCCCTACAGCAGAATTTT c.360
L N A V A S V P I M Y S W S P L Q Q N F p.120
| 05 . . . . . . g.59558
ATG | GTGGAAGATGAAACTGTTTTACATAACATTCCTTATATGGGAGATGAAGTTTTAGAT c.420
M | V E D E T V L H N I P Y M G D E V L D p.140
. . . . . . g.59618
CAGGATGGTACTTTCATTGAAGAACTAATAAAAAATTATGATGGGAAAGTACACGGGGAT c.480
Q D G T F I E E L I K N Y D G K V H G D p.160
| 06 . . . . . . g.60525
AGAG | AATGTGGGTTTATAAATGATGAAATTTTTGTGGAGTTGGTGAATGCCCTTGGTCAA c.540
R E | C G F I N D E I F V E L V N A L G Q p.180
. . . . . . g.60585
TATAATGATGATGACGATGATGATGATGGAGACGATCCTGAAGAAAGAGAAGAAAAGCAG c.600
Y N D D D D D D D G D D P E E R E E K Q p.200
. . | 07 . . . . g.62118
AAAGATCTGGAGGATCACCGAGATG | ATAAAGAAAGCCGCCCACCTCGGAAATTTCCTTCT c.660
K D L E D H R D D | K E S R P P R K F P S p.220
. . . . . . g.62178
GATAAAATTTTTGAAGCCATTTCCTCAATGTTTCCAGATAAGGGCACAGCAGAAGAACTA c.720
D K I F E A I S S M F P D K G T A E E L p.240
| 08 . . . . . g.62769
AAGGAAAA | ATATAAAGAACTCACCGAACAGCAGCTCCCAGGCGCACTTCCTCCTGAATGT c.780
K E K | Y K E L T E Q Q L P G A L P P E C p.260
. . . . . . g.62829
ACCCCCAACATAGATGGACCAAATGCTAAATCTGTTCAGAGAGAGCAAAGCTTACACTCC c.840
T P N I D G P N A K S V Q R E Q S L H S p.280
. . . . . . g.62889
TTTCATACGCTTTTCTGTAGGCGATGTTTTAAATATGACTGCTTCCTACATCGTAAGTGC c.900
F H T L F C R R C F K Y D C F L H R K C p.300
| 09. . . . . . g.69715
AATTATT | CTTTTCATGCAACACCCAACACTTATAAGCGGAAGAACACAGAAACAGCTCTA c.960
N Y S | F H A T P N T Y K R K N T E T A L p.320
. . . | 10 . . g.71253
GACAACAAACCTTGTGGACCACAGTGTTACCAGCATTTG | GAGGGAGCAAAGGAGTTTGCT c.1020
D N K P C G P Q C Y Q H L | E G A K E F A p.340
. . . . . . g.71313
GCTGCTCTCACCGCTGAGCGGATAAAGACCCCACCAAAACGTCCAGGAGGCCGCAGAAGA c.1080
A A L T A E R I K T P P K R P G G R R R p.360
. . . . . . g.71373
GGACGGCTTCCCAATAACAGTAGCAGGCCCAGCACCCCCACCATTAATGTGCTGGAATCA c.1140
G R L P N N S S R P S T P T I N V L E S p.380
. . . . . . g.71433
AAGGATACAGACAGTGATAGGGAAGCAGGGACTGAAACGGGGGGAGAGAACAATGATAAA c.1200
K D T D S D R E A G T E T G G E N N D K p.400
. . . . | 11 . . g.71978
GAAGAAGAAGAGAAGAAAGATGAAACTTCGAGCTCCTCTG | AAGCAAATTCTCGGTGTCAA c.1260
E E E E K K D E T S S S S E | A N S R C Q p.420
. . . . . . g.72038
ACACCAATAAAGATGAAGCCAAATATTGAACCTCCTGAGAATGTGGAGTGGAGTGGTGCT c.1320
T P I K M K P N I E P P E N V E W S G A p.440
. . . . . . g.72098
GAAGCCTCAATGTTTAGAGTCCTCATTGGCACTTACTATGACAATTTCTGTGCCATTGCT c.1380
E A S M F R V L I G T Y Y D N F C A I A p.460
. . . | 12 . . . g.72601
AGGTTAATTGGGACCAAAACATGTAGACAG | GTGTATGAGTTTAGAGTCAAAGAATCTAGC c.1440
R L I G T K T C R Q | V Y E F R V K E S S p.480
. . . . . . g.72661
ATCATAGCTCCAGCTCCCGCTGAGGATGTGGATACTCCTCCAAGGAAAAAGAAGAGGAAA c.1500
I I A P A P A E D V D T P P R K K K R K p.500
| 13 . . . . | 14 . . g.74324
CACCG | GTTGTGGGCTGCACACTGCAGAAAGATACAGCTGAAAAAGG | ACGGCTCCTCTAAC c.1560
H R | L W A A H C R K I Q L K K D | G S S N p.520
. . . . . . g.74384
CATGTTTACAACTATCAACCCTGTGATCATCCACGGCAGCCTTGTGACAGTTCGTGCCCT c.1620
H V Y N Y Q P C D H P R Q P C D S S C P p.540
. . . . . | 15 . g.75220
TGTGTGATAGCACAAAATTTTTGTGAAAAGTTTTGTCAATGTAGTTCAGAGT | GTCAAAAC c.1680
C V I A Q N F C E K F C Q C S S E C | Q N p.560
. . . . . . g.75280
CGCTTTCCGGGATGCCGCTGCAAAGCACAGTGCAACACCAAGCAGTGCCCGTGCTACCTG c.1740
R F P G C R C K A Q C N T K Q C P C Y L p.580
. . . . . . g.75340
GCTGTCCGAGAGTGTGACCCTGACCTCTGTCTTACTTGTGGAGCCGCTGACCATTGGGAC c.1800
A V R E C D P D L C L T C G A A D H W D p.600
. . . . . | 16 . g.77638
AGTAAAAATGTGTCCTGCAAGAACTGCAGTATTCAGCGGGGCTCCAAAAAG | CATCTATTG c.1860
S K N V S C K N C S I Q R G S K K | H L L p.620
. . . . . . g.77698
CTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAAT c.1920
L A P S D V A G W G I F I K D P V Q K N p.640
. . | 17. . . . g.78968
GAATTCATCTCAGAATACTGTGGAGAG | ATTATTTCTCAAGATGAAGCTGACAGAAGAGGG c.1980
E F I S E Y C G E | I I S Q D E A D R R G p.660
. . . . | 18 . g.79970
AAAGTGTATGATAAATACATGTGCAGCTTTCTGTTCAACTTGAACAATG | ATTTTGTGGTG c.2040
K V Y D K Y M C S F L F N L N N D | F V V p.680
. . . . . . g.80030
GATGCAACCCGCAAGGGTAACAAAATTCGTTTTGCAAATCATTCGGTAAATCCAAACTGC c.2100
D A T R K G N K I R F A N H S V N P N C p.700
. | 19 . . . . . g.80244
TATGCAAAAG | TTATGATGGTTAACGGTGATCACAGGATAGGTATTTTTGCCAAGAGAGCC c.2160
Y A K V | M M V N G D H R I G I F A K R A p.720
. . . | 20 . . . g.81668
ATCCAGACTGGCGAAGAGCTGTTTTTTGATTACAG | ATACAGCCAGGCTGATGCCCTGAAG c.2220
I Q T G E E L F F D Y R | Y S Q A D A L K p.740
. . . g.81704
TATGTCGGCATCGAAAGAGAAATGGAAATCCCTTGA c.2256
Y V G I E R E M E I P X p.751
. . . . . . g.81764
catctgctacctcctcccccctcctctgaaacagctgccttagcttcaggaacctcgagt c.*60
. . . . . . g.81824
actgtgggcaatttagaaaaagaacatgcagtttgaaattctgaatttgcaaagtactgt c.*120
. . . . . . g.81884
aagaataatttatagtaatgagtttaaaaatcaactttttattgccttctcaccagctgc c.*180
. . . . . . g.81944
aaagtgttttgtaccagtgaatttttgcaataatgcagtatggtacatttttcaactttg c.*240
. . . g.81978
aataaagaatacttgaacttgtccttgttgaatc c.*274
(downstream sequence)
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