(used for variant description)
(last modified January 22, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_018051.4 in the WDR60 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering WDR60 transcript NM_018051.4.
(upstream sequence)
. . . g.5038
ctgggcagtgcttctgggccctctgctgctcctgcttg c.-121
. . . . . . g.5098
tcggttgctaggcgctgggacgcgcctcccgaagggtgcggggcacaggtggcctcttcg c.-61
. . . . . . g.5158
gggtggaccgcgcctggccggggccgaggacaccgcggccgcccgggcctgcgggaagcg c.-1
. | 02 . . . . . g.18322
ATGGAGCCCGGGAAG | AGAAGAACCAAAGATGATACCTGGAAAGCAGATGACCTCAGAAAA c.60
M E P G K | R R T K D D T W K A D D L R K p.20
| 03 . . . . . g.19615
CATCTCTGG | GCCATACAGTCAGGTGGTTCCAAGGAAGAAAGAAAGCACAGAGAGAAGAAG c.120
H L W | A I Q S G G S K E E R K H R E K K p.40
. . . . . . g.19675
CTGCGTAAGGAGTCTGAGATGGACCTTCCTGAACATAAGGAGCCGAGGTGCAGGGATCCC c.180
L R K E S E M D L P E H K E P R C R D P p.60
. . . . . . g.19735
GACCAGGATGCCAGGAGCAGAGACAGGGTGGCCGAAGTCCACACCGCTAAGGAGAGTCCT c.240
D Q D A R S R D R V A E V H T A K E S P p.80
. . . . . . g.19795
CGTGGGGAGAGGGACAGAGACAGACAGAGGGAGAGGAGAAGAGACGCAAAAGACCGGGAG c.300
R G E R D R D R Q R E R R R D A K D R E p.100
. . . . . . g.19855
AAAGAAAAGCTGAAGGAGAAACATCGAGAGGCAGAAAAGTCTCACAGCAGAGGAAAGGAC c.360
K E K L K E K H R E A E K S H S R G K D p.120
. . . . . . g.19915
AGGGAAAAAGAAAAAGACAGAAGGGCCCGGAAGGAAGAGCTCCGGCAGACCGTGGCCCAC c.420
R E K E K D R R A R K E E L R Q T V A H p.140
. . . . . . g.19975
CACAACCTGCTGGGCCAGGAGACACGCGACCGGCAGCTCCTGGAGCGGGCGGAGAGGAAA c.480
H N L L G Q E T R D R Q L L E R A E R K p.160
. | 04 . . . . . g.25081
GGCCGCTCAG | TAAGTAAAGTAAGAAGTGAAGAGAAAGATGAAGACTCTGAAAGAGGAGAT c.540
G R S V | S K V R S E E K D E D S E R G D p.180
. . . | 05 . . . g.28133
GAAGATAGAGAAAGAAGATACCGAGAAAGAAAG | CTGCAGTACGGAGACAGCAAGGACAAC c.600
E D R E R R Y R E R K | L Q Y G D S K D N p.200
. . . . . . g.28193
CCTCTCAAGTACTGGCTTTATAAAGAAGAAGGCGAGAGGAGACACAGGAAGCCCAGAGAG c.660
P L K Y W L Y K E E G E R R H R K P R E p.220
. . . . . . g.28253
CCAGATCGAGACAACAAACACCGAGAAAAAAGCAGCACAAGGGAAAAAAGAGAGAAATAT c.720
P D R D N K H R E K S S T R E K R E K Y p.240
. . . . . . g.28313
TCCAAAGAGAAAAGTAATTCATTCTCTGACAAAGGGGAAGAAAGACATAAAGAAAAGCGA c.780
S K E K S N S F S D K G E E R H K E K R p.260
. . . . . . g.28373
CACAAAGAAGGTTTTCATTTTGATGATGAGAGGCACCAAAGCAACGTGGATAGAAAAGAG c.840
H K E G F H F D D E R H Q S N V D R K E p.280
. . . | 06 . . g.33007
AAATCGGCAAAAGATGAGCCCAGGAAAAGGGAATCCCAG | AATGGTGAACACAGAAATCGA c.900
K S A K D E P R K R E S Q | N G E H R N R p.300
. . . | 07 . . . g.35468
GGTGCAAGCTCAAAAAGAGATGGGACCAGCAGCCA | GCATGCTGAGAATTTAGTAAGGAAT c.960
G A S S K R D G T S S Q | H A E N L V R N p.320
. . . | 08 . . . g.39717
CATGGAAAAGATAAAGATTCAAGACGGAAG | CATGGCCACGAGGAAGGCTCTTCTGTGTGG c.1020
H G K D K D S R R K | H G H E E G S S V W p.340
. . . | 09 . . g.50182
TGGAAGCTGGACCAGAGGCCGGGAGGCGAGGAAACCGTG | GAAATTGAAAAGGAAGAAACT c.1080
W K L D Q R P G G E E T V | E I E K E E T p.360
. . . . . | 10. g.50801
GATTTAGAAAATGCTAGAGCTGATGCATATACAGCCAGTTGTGAAGATGATTTTGAA | GAC c.1140
D L E N A R A D A Y T A S C E D D F E | D p.380
. . . . . . g.50861
TATGAAGATGACTTTGAGGTTTGTGATGGTGATGATGATGAAAGCAGTAATGAACCTGAG c.1200
Y E D D F E V C D G D D D E S S N E P E p.400
. . . . . . g.50921
TCAAGAGAAAAACTGGAAGAACTTCCTCTAGCTCAAAAAAAGGAAATACAAGAAATTCAA c.1260
S R E K L E E L P L A Q K K E I Q E I Q p.420
. . . . . . g.50981
AGAGCTATTAATGCAGAAAATGAAAGGATTGGCGAGTTATCTTTGAAACTGTTTCAGAAG c.1320
R A I N A E N E R I G E L S L K L F Q K p.440
. . . | 11. . . g.54434
CGAGGTAGAACAGAATTTGAAAAGGAGCCCAGGACAG | ATACAAACAGTTCCCCTTCCAGA c.1380
R G R T E F E K E P R T D | T N S S P S R p.460
. . . . . . g.54494
GCCTCTGTTTGTGGAATTTTTGTGGATTTTGCCTCAGCTTCACACCGTCAAAAGAGTCGG c.1440
A S V C G I F V D F A S A S H R Q K S R p.480
. . | 12 . . . . g.60012
ACTCAGGCCCTTAAGCAAAA | GATGCGAAGTACAAAACTGCTTCGGCTCATTGACTTAGAT c.1500
T Q A L K Q K | M R S T K L L R L I D L D p.500
. . . . . . g.60072
TTTTCATTTACTTTCTCTCTCTTGGATCTACCACCAGTAAATGAATATGACATGTATATC c.1560
F S F T F S L L D L P P V N E Y D M Y I p.520
. . . | 13 . . . g.61437
AGAAACTTTGGGAAAAAAAATACCAAGCAG | GCATATGTTCAGTGTAACGAAGATAATGTT c.1620
R N F G K K N T K Q | A Y V Q C N E D N V p.540
. . . . . . g.61497
GAAAGAGACATTCAAACGGAGGAAATAGAGACCAGGGAAGTGTGGACCCAGCACCCGGGA c.1680
E R D I Q T E E I E T R E V W T Q H P G p.560
. . | 14 . . . . g.62693
GAAAGTACTGTTGTATCTGGAG | GCAGTGAACAAAGAGATACCTCTGATGCTGTAGTTATG c.1740
E S T V V S G G | S E Q R D T S D A V V M p.580
. . . . . | 15 . g.67171
CCAAAGATTGATACTCCAAGGTTATGTAGCTTTCTGCGGGCTGCTTGTCAG | GTGATGGCC c.1800
P K I D T P R L C S F L R A A C Q | V M A p.600
. . . . . . g.67231
GTTTTGCTGGAAGAGGATCGCTTGGCAGCTGAACCCAGCTGGAATCTTAGGGCTCAAGAC c.1860
V L L E E D R L A A E P S W N L R A Q D p.620
. . . . . . g.67291
AGGGCCCTGTATTTTAGTGACAGCTCATCTCAGCTGAACACCAGTCTACCATTCCTTCAA c.1920
R A L Y F S D S S S Q L N T S L P F L Q p.640
| 16 . . . . . . g.70858
A | ATCGAAAAGTATCCTCCTTGCACACCTCCCGAGTTCAGAGGCAGATGGTGGTCTCCGTT c.1980
N | R K V S S L H T S R V Q R Q M V V S V p.660
. . . . . . g.70918
CACGACTTACCCGAGAAGAGCTTTGTGCCCCTGCTGGACAGCAAATACGTCCTCTGTGTG c.2040
H D L P E K S F V P L L D S K Y V L C V p.680
. . . . . | 17 . g.71999
TGGGATATTTGGCAGCCTTCAGGGCCACAGAAAGTTCTGATATGTGAGTCCCAG | GTCACG c.2100
W D I W Q P S G P Q K V L I C E S Q | V T p.700
. . . . . . g.72059
TGTTGCTGCTTGAGCCCTTTGAAAGCATTTTTACTGTTTGCCGGAACAGCGCACGGCTCA c.2160
C C C L S P L K A F L L F A G T A H G S p.720
. . . . . . g.72119
GTTGTCGTCTGGGATTTGAGAGAAGACTCAAGGCTGCATTACTCTGTGACGCTGAGCGAT c.2220
V V V W D L R E D S R L H Y S V T L S D p.740
. . . | 18. . . g.74632
GGCTTCTGGACGTTCCGGACCGCCACGTTTTCCACCG | ATGGAATCCTTACCTCAGTAAAC c.2280
G F W T F R T A T F S T D | G I L T S V N p.760
. . . . . . g.74692
CACCGAAGCCCTCTTCAAGCAGTAGAACCTATCTCAACGTCCGTCCACAAAAAGCAGAGC c.2340
H R S P L Q A V E P I S T S V H K K Q S p.780
. . . | 19 . . . g.74853
TTTGTGCTTTCACCCTTTTCTACTCAAGAAG | AAATGTCAGGTTTGTCCTTCCACATCGCT c.2400
F V L S P F S T Q E E | M S G L S F H I A p.800
. . . | 20 . . . g.75441
TCCTTGGATGAGAGTGGGGTTCTCAATGTATGG | GTGGTTGTTGAATTACCAAAGGCAGAC c.2460
S L D E S G V L N V W | V V V E L P K A D p.820
. . | 21 . . . . g.78912
ATCGCAGGTTCAATAAGTGATTTAG | GTCTGATGCCTGGAGGGAGGGTCAAGCTGGTACAT c.2520
I A G S I S D L G | L M P G G R V K L V H p.840
. . | 22 . . . . g.82585
AGTGCTCTGATCCAGTTGGGTGACAG | TCTTTCCCATAAAGGTAATGAATTTTGGGGCACT c.2580
S A L I Q L G D S | L S H K G N E F W G T p.860
. . . . . . g.82645
ACACAAACACTGAATGTTAAATTTCTGCCTTCAGATCCTAATCACTTTATTATTGGCACA c.2640
T Q T L N V K F L P S D P N H F I I G T p.880
| 23 . . . . . . g.82894
GACATG | GGTCTCATAAGCCATGGCACAAGACAAGATTTGAGAGTGGCTCCCAAACTATTC c.2700
D M | G L I S H G T R Q D L R V A P K L F p.900
. . . . . . g.82954
AAACCTCAGCAACATGGTATAAGACCAGTGAAAGTTAATGTCATTGATTTTTCACCATTT c.2760
K P Q Q H G I R P V K V N V I D F S P F p.920
. | 24 . . . . g.90389
GGAGAACCAATATTTTTG | GCCGGCTGTTCGGACGGAAGCATCAGGCTGCACCAGCTGAGC c.2820
G E P I F L | A G C S D G S I R L H Q L S p.940
. . . . . . g.90449
TCCGCGTTTCCGCTCCTGCAGTGGGACAGCAGCACGGACAGCCATGCGGTCACCGGCCTG c.2880
S A F P L L Q W D S S T D S H A V T G L p.960
. . . . . . g.90509
CAGTGGTCCCCAACCAGGCCTGCCGTGTTCCTGGTGCAGGACGACACATCCAACATCTAC c.2940
Q W S P T R P A V F L V Q D D T S N I Y p.980
. . . . . . g.90569
ATCTGGGACCTCCTCCAGAGCGATCTGGGTCCTGTCGCCAAACAGCAGGTCTCCCCCAAC c.3000
I W D L L Q S D L G P V A K Q Q V S P N p.1000
| 25 . . . . . . g.94061
AG | GCTGGTGGCCATGGCTGCGGTGGGTGAGCCTGAGAAGGCTGGTGGCAGCTTCCTGGCC c.3060
R | L V A M A A V G E P E K A G G S F L A p.1020
. . . . . . g.94121
CTGGTGCTGGCCAGGGCGTCTGGCTCCATCGACATCCAGCACCTGAAGAGGCGGTGGGCG c.3120
L V L A R A S G S I D I Q H L K R R W A p.1040
. . . . . . g.94181
GCCCCGGAGGTGGACGAGTGCAACAGGCTGCGTCTGCTTTTGCAGGAAGCCCTGTGGCCA c.3180
A P E V D E C N R L R L L L Q E A L W P p.1060
. . g.94202
GAGGGAAAACTGCACAAGTAG c.3201
E G K L H K X p.1066
. . . . . . g.94262
cgggtgtggctgagaggaccgcgtttctgtaatgacccagatttaaaagacataaggtgg c.*60
. . . . . . g.94322
ataattctacatttgtgtgcaagtatatttatgtatatagactatgtatattctgtatat c.*120
. . . . . . g.94382
aatttattttacatgaatatgtctttggtattcccagtaaatagatgactacttttgagt c.*180
. . . . . . g.94442
ggaaacaaagaacattctagcatttacaaaacttccaggggaatgtagagccacgtccag c.*240
. . . . . . g.94502
ggtgctcttttctgagagtatttcgagttatttttagaacagtttaaatattgtcacatt c.*300
. . . . . . g.94562
actgctagattttaaacagcctaccatgaaaatgtatcttaatgaactattttcttatgc c.*360
. . . . . g.94615
ataaagtatgtgaacacatgtctaaattaaaaggaattactccaccgaaatga c.*413
(downstream sequence)
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