(used for variant description)
(last modified February 13, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_144668.5 in the WDR66 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021364.1, covering WDR66 transcript NM_144668.5.
(upstream sequence)
. . . g.5039
gcggttgccatggggacggagcttgggtggcaaccagaa c.-121
. . . . . . g.5099
ctagggagctggtggagaaggtggcggccgctggaaggaggcccgggaggtggctgaggg c.-61
. . . . | 02 . g.7749
gtccaggcggcgggacgactctggccttttgaagaccggg | aggaaactctacagagaaga c.-1
. . . . . . g.7809
ATGTCAGATGCAGCAGAAGCTCCCCGAGAAGCAACAGGAGAAAATGGAGAAACAGAAATG c.60
M S D A A E A P R E A T G E N G E T E M p.20
. . . . . . g.7869
AAAGAAGAGGAGGAACCTAATCCAAATTATAAAGAAGTAGAAGATCCACAACAGGAATCA c.120
K E E E E P N P N Y K E V E D P Q Q E S p.40
. . . . . . g.7929
AAAGATGACACAATAGCATGGAGAGAGTCTCAGGAGGAGGAGAGGAAAACGGGCGAGGAG c.180
K D D T I A W R E S Q E E E R K T G E E p.60
. . . . . . g.7989
GAAGGGGAGGAGGAGGGGAAGGAGGACAAAAAGATTGTCATGGAAGAAACTGAGGAAAAG c.240
E G E E E G K E D K K I V M E E T E E K p.80
. . . . . . g.8049
GCTGGAGAAGTCCAAGAGAAGGAGGCTTCAGGAATACAGGAAGAAACCACAGTAGAGCCC c.300
A G E V Q E K E A S G I Q E E T T V E P p.100
. . . . . . g.8109
CAAGAAGTCACAGCGTCCATGATCCGTTTGGAGACACAGATTACTGATTCCCAGTCAATC c.360
Q E V T A S M I R L E T Q I T D S Q S I p.120
. | 03 . . . . g.10107
ACATCAGGAATTTTCCCA | AAAACCCAAAGAGGTAGCAAGTCAAAGCTTTCCTTACAATTG c.420
T S G I F P | K T Q R G S K S K L S L Q L p.140
. . . . . . g.10167
GAGGATGCAGAAACAGATGAGCTTTTAAGAGACCTGAGCACACAAATTGAATTTCTTGAT c.480
E D A E T D E L L R D L S T Q I E F L D p.160
. . . . . . g.10227
TTGGATCAAATCAGTCCTGAGGAACAACAGATTAGTTCCCCTGAAAGGCAGCCCTCAGGA c.540
L D Q I S P E E Q Q I S S P E R Q P S G p.180
. . . . . . g.10287
GAGCTTGAGGAGAAAACCGACCGGATGCCCCAAGATGAACTGGGACAAGAAAGAAGGGAC c.600
E L E E K T D R M P Q D E L G Q E R R D p.200
. . . . . . g.10347
TTGGAGCCAGAAAACAGAGAGGAGGGACAAGAAAGGAGAGTATCCGACATCCAGTCCAAA c.660
L E P E N R E E G Q E R R V S D I Q S K p.220
. . . . . . g.10407
GCAGGGATCTCCCGGGAGTCACTGGTGTCCAGCACCACAGAGGACATTCTGTTTCAAAAG c.720
A G I S R E S L V S S T T E D I L F Q K p.240
. . | 04. . . . g.18222
GATAAAAGCACCCCGGTGTATCCCTTG | ACCATGACCTGGTCGTTTGGATGGAACAGTTCT c.780
D K S T P V Y P L | T M T W S F G W N S S p.260
. . . . . . g.18282
CTTCCTGTTTACTATATTCGAGAGGAAAGGCAGAGAGTTCTTCTGTATGTTTGTGCTCAC c.840
L P V Y Y I R E E R Q R V L L Y V C A H p.280
. . . . | 05 . g.20702
ACTGCGATCATCTACAACGTGTTCAGGAACAATCAATACCACCTTCAG | GGCCACGCCAAT c.900
T A I I Y N V F R N N Q Y H L Q | G H A N p.300
. . . . . . g.20762
ATTATCTCCTGCCTCTGCGTCAGTGAAGACAGGCGGTGGATCGCCACAGCAGACAAAGGG c.960
I I S C L C V S E D R R W I A T A D K G p.320
. . . | 06 . . g.28999
CCAGACTGCCTGGTGATTATATGGGACTCCTTCACAGG | TATTCCTGTGCACACAATATTT c.1020
P D C L V I I W D S F T G | I P V H T I F p.340
. . . . . . g.29059
GACAGCTGCCCTGAAGGGAATGGCATCATGGCCATGGCCATGACCCACGACGCCAAGTAT c.1080
D S C P E G N G I M A M A M T H D A K Y p.360
. . . | 07 . . . g.29368
CTGGCAACCATCTCAGATGCTGAAGTCCAG | AAGGTATGCATCTGGAAGTGGACTTTGGCA c.1140
L A T I S D A E V Q | K V C I W K W T L A p.380
. . . . . | 08 . g.35436
GTGGAAACGCCAGCATGCACTCTCGAACTCCCCACAGAGTACGGTGTTCAG | AACTACGTT c.1200
V E T P A C T L E L P T E Y G V Q | N Y V p.400
. . . . . . g.35496
ACTTTTAACCCAACAAATAATAAAGAATTGGTGAGCAATAGTAAAACACGGGCAATATAT c.1260
T F N P T N N K E L V S N S K T R A I Y p.420
| 09 . . . . . g.37974
TATGCATGG | TATGAAGAGAGGGATACACTGGCTCACAGTGCCCCACTTTTAACTGAAAAA c.1320
Y A W | Y E E R D T L A H S A P L L T E K p.440
| 10 . . . . . . g.40623
| ACCTTCAACAAGCTTGTGGGAAAGTTTAGCCAGTCCATCTTTCACTTGAATTTAACACAA c.1380
| T F N K L V G K F S Q S I F H L N L T Q p.460
. . . . . . g.40683
ATACTCTCAGCCACAATGGAAGGGAAGCTGGTTGTCTGGGACATACACCGCCCACCCTCA c.1440
I L S A T M E G K L V V W D I H R P P S p.480
. . . . . . g.40743
TCTGCCTCCACCTTTTTGGGCTTTCCCTATATCAAGCCTTGTAAATTGGTTCATTTGCAG c.1500
S A S T F L G F P Y I K P C K L V H L Q p.500
. . . | 11 . . . g.43542
AAAGAGGGTATCACGGTACTTACCACAATTGATAG | CTACATTGTCACAGGTGACATTAAG c.1560
K E G I T V L T T I D S | Y I V T G D I K p.520
. . . . . . g.43602
GGGAACATTAAGTTCTATGATCACACCCTGTCTATTGTTAACTGGTACAGTCACTTGAAA c.1620
G N I K F Y D H T L S I V N W Y S H L K p.540
. . . . . . g.43662
CTGGGCGCCATAAGAACTCTGTCCTTTTCAAAGACCCCAGCAACTCCTCCTACTGAAAAA c.1680
L G A I R T L S F S K T P A T P P T E K p.560
. . . . . | 12 . g.44725
TCAAACTATCCTCCTGACTGCACTTTAAAAGGTGACCTTTTTGTCTTAAG | GAATTTTATC c.1740
S N Y P P D C T L K G D L F V L R | N F I p.580
. . . . . . g.44785
ATTGGAACATCTGATGCCGCGGTGTACCACTTAACAACAGATGGGACCAAACTTGAGAAG c.1800
I G T S D A A V Y H L T T D G T K L E K p.600
. . . . . . g.44845
TTATTTGTAGAGCCCAAGGATGCCATTTGTGCCATCTCCTGCCACCCATATCAACCCCTC c.1860
L F V E P K D A I C A I S C H P Y Q P L p.620
. . . . . . g.44905
ATTGCCATCGGGAGCATCTGTGGGATGATCAAAGTGTGGAATTATGAAAACAAACAATAT c.1920
I A I G S I C G M I K V W N Y E N K Q Y p.640
. . . . . . g.44965
CTTTTCAGCAGGGTTTTTGAGAAGGGGCTTGGAGTCCAGAGTCTGACCTACAACCCCGAA c.1980
L F S R V F E K G L G V Q S L T Y N P E p.660
| 13 . . . . . . g.45445
G | GAGCCCTTCTTGGAGCTGGCTTTACAGAGGGGACAGTTTACATTCTTGATGCAATGTCT c.2040
G | A L L G A G F T E G T V Y I L D A M S p.680
. . . . . . g.45505
TTAGAAAATGAAAGCCCAGAGCCTTTCAAATATTCCAGAACCAGTGTGACTCATATAAGC c.2100
L E N E S P E P F K Y S R T S V T H I S p.700
. . . | 14 . . . g.47055
TTTTCCCATGACTCCCAGTATATGGCAACTGCT | GATAGAAGTTTTACTGTGGCTGTTTAC c.2160
F S H D S Q Y M A T A | D R S F T V A V Y p.720
. . . . . . g.47115
ATGCTGGTGGTCAGAAATGGACAGAGGGTCTGGGAGTACTTAGCAAGACTTCGCTCTCAT c.2220
M L V V R N G Q R V W E Y L A R L R S H p.740
. . . . . . g.47175
CGCAAAAGCATTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAGCCTAGACTG c.2280
R K S I R S L L F G V Y L D S N E P R L p.760
. . | 15. . . . g.48454
CTGAGCCTTGGGACAGACAGGCTCTTG | ATAGAGTATGATCTTCTCAGGAGCTACAAAGAC c.2340
L S L G T D R L L | I E Y D L L R S Y K D p.780
. . . . . . g.48514
CACCTGGAAGTCCTGGACATTCACCACACCGACCAGGGCTGCTATCCCACCTGCATGGTC c.2400
H L E V L D I H H T D Q G C Y P T C M V p.800
. . . . . . g.48574
TGGTACCCACCACTCACCAGGGAACTCTTCCTGCTTATTTGCAACAGTGGCTACAAAGTG c.2460
W Y P P L T R E L F L L I C N S G Y K V p.820
. . . | 16 . . . g.53426
AAGCTTTTTAATGCTACTACCAAAATGTGCAG | AAAGACGCTTCTGGGGCCAGCTTATGGT c.2520
K L F N A T T K M C R | K T L L G P A Y G p.840
. . . . . . g.53486
TCCCCTATTGAGCAGACACAAGTCCTCCCAGTGAGAAGCATGGCGGAGCTACAGAAACGC c.2580
S P I E Q T Q V L P V R S M A E L Q K R p.860
. . | 17. . . . g.54482
TACTTGGTGTTTATTAACAGAGACAAG | GTGGGACTTCAGATCTTACCAGTTGACGGCAAT c.2640
Y L V F I N R D K | V G L Q I L P V D G N p.880
. . . . . . g.54542
CCACATAAGACATCTGCTATTGTTTGCCACCCGAACGGGGTGGCCGGCATGGCCGTTTCC c.2700
P H K T S A I V C H P N G V A G M A V S p.900
. . . . . . g.54602
TATGATGGCTGCTACGCCTTCACTGCGGGAGGGCACGATCGCTCGGTGGTGCAGTGGAAA c.2760
Y D G C Y A F T A G G H D R S V V Q W K p.920
. | 18 . . . . . g.61736
ATCACCTTAAG | TGTCCTGGAGGCAGCGGTTTCTCTTGGGGGTGAAGACTTGACCCCATTC c.2820
I T L S | V L E A A V S L G G E D L T P F p.940
. . . . | 19 . . g.62003
TATGGTCTGCTGTCTGGTGGCCGGGAAGGAAAATTCTACAGG | GAGCTAGAAGACTACTTC c.2880
Y G L L S G G R E G K F Y R | E L E D Y F p.960
. . . . . . g.62063
TACTATTCTCAGCTCCGCAGTCAAGGCATCGACACAATGGAGACCAGAAAGGTGTCAGAA c.2940
Y Y S Q L R S Q G I D T M E T R K V S E p.980
. . . . . . g.62123
CACATTTGCCTGTCAGAGCTTCCTTTTGTCATGAGAGCAATTGGCTTTTACCCATCTGAA c.3000
H I C L S E L P F V M R A I G F Y P S E p.1000
| 20 . . . . . . g.86213
GAGAAG | ATTGATGATATATTTAACGAAATCAAATTTGGTGAATATGTGGACACTGGAAAG c.3060
E K | I D D I F N E I K F G E Y V D T G K p.1020
. . . . . . g.86273
CTAATCGACAAGATCAACTTACCAGATTTCCTAAAAGTGTACCTTAACCACAAGCCACCT c.3120
L I D K I N L P D F L K V Y L N H K P P p.1040
. . . . . . g.86333
TTTGGTAACACCATGAGTGGCATCCACAAGAGCTTTGAGGTGCTCGGTTATACCAACTCC c.3180
F G N T M S G I H K S F E V L G Y T N S p.1060
. . . . . | 21 . g.87945
AAAGGGAAAAAGGCCATTCGAAGAGAGGACTTCCTGAGACTGCTCGTTACTAAAG | GTGAG c.3240
K G K K A I R R E D F L R L L V T K G | E p.1080
. . . . . . g.88005
CATATGACGGAGGAGGAGATGTTGGATTGCTTTGCTTCACTGTTTGGCCTGAATCCCGAG c.3300
H M T E E E M L D C F A S L F G L N P E p.1100
. . . | 22. . . g.90118
GGATGGAAATCCGAGCCTGCAACCTGCTCCGTCAAAG | GTTCAGAAATTTGCCTTGAAGAA c.3360
G W K S E P A T C S V K G | S E I C L E E p.1120
. . . . . . g.90178
GAACTTCCAGACGAAATCACTGCAGAAATATTCGCGACTGAAATTCTTGGCTTAACCATT c.3420
E L P D E I T A E I F A T E I L G L T I p.1140
. . . g.90208
TCAGAAGATTCCGGCCAGGATGGTCAGTGA c.3450
S E D S G Q D G Q X p.1149
. . . . . . g.90268
agttaccaggaatgtttaaagcacaaaggactttgggtgtgtgtgcatgcacatgtgtgt c.*60
. . . . . . g.90328
gttttccatgaggcactgctttttatgcatttccctcccccctctcatctttagaacatt c.*120
. . . . g.90371
tagacattaaagcaagtttctggtgagcaatggaattcacaaa c.*163
(downstream sequence)
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