(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001083961.1 in the WDR62 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028101.1, covering WDR62 transcript NM_001083961.1.
(upstream sequence)
. . . g.5031
tttcccgcggctgttcgctgttccagtgggt c.-61
. . . . . . g.5091
cgtggcggtggcggcagcggcggttaggggatgtaacggtcgcccgcctccggcgtgacg c.-1
. . . . . . g.5151
ATGGCGGCCGTAGGGTCCGGAGGCTATGCGCGGAACGATGCAGGGGAGAAGCTGCCCTCT c.60
M A A V G S G G Y A R N D A G E K L P S p.20
. . . . . . g.5211
GTCATGGCGGGAGTTCCGGCGCGGAGGGGCCAGTCCTCCCCGCCCCCCGCCCCACCAATC c.120
V M A G V P A R R G Q S S P P P A P P I p.40
. . . . . | 02. g.8902
TGCCTACGGCGGCGGACGCGACTCTCGACGGCCTCCGAGGAGACGGTGCAGAACCGG | GTG c.180
C L R R R T R L S T A S E E T V Q N R | V p.60
. . . . . . g.8962
TCACTCGAGAAGGTGCTTGGCATCACAGCCCAGAACAGCAGTGGCCTAACCTGTGACCCC c.240
S L E K V L G I T A Q N S S G L T C D P p.80
. . | 03 . . . g.10118
GGCACAGGCCATGTGGCCTACCTGGCAGG | CTGTGTGGTGGTGATTTTGGACCCCAAGGAG c.300
G T G H V A Y L A G | C V V V I L D P K E p.100
. . . | 04 . . . g.16105
AACAAGCAGCAGCACATCTTTAACACCGCCAG | GAAGTCTCTCAGTGCTCTGGCCTTCTCC c.360
N K Q Q H I F N T A R | K S L S A L A F S p.120
. . . | 05 . . . g.16406
CCTGATGGGAAGTACATAGTGACAGGGGAG | AATGGGCATAGGCCTGCTGTGCGCATCTGG c.420
P D G K Y I V T G E | N G H R P A V R I W p.140
. . . . . . g.16466
GATGTGGAGGAGAAGAATCAGGTGGCGGAGATGCTAGGCCACAAGTATGGTGTGGCGTGT c.480
D V E E K N Q V A E M L G H K Y G V A C p.160
. . . . . . g.16526
GTGGCCTTCTCACCCAATATGAAGCACATCGTGTCCATGGGCTACCAACATGACATGGTG c.540
V A F S P N M K H I V S M G Y Q H D M V p.180
. . | 06 . . . . g.17464
CTCAACGTCTGGGACTGGAAG | AAAGACATCGTAGTGGCCTCCAACAAGGTATCTTGTAGA c.600
L N V W D W K | K D I V V A S N K V S C R p.200
. . . . . . g.17524
GTCATTGCCCTCTCCTTCTCAGAGGACAGCAGCTATTTTGTCACTGTTGGGAACCGCCAT c.660
V I A L S F S E D S S Y F V T V G N R H p.220
. . . | 07 . . g.17968
GTGAGGTTCTGGTTCTTGGAAGTCTCCACTGAGACAAAG | GTGACGAGCACAGTGCCCCTT c.720
V R F W F L E V S T E T K | V T S T V P L p.240
. . . . . . g.18028
GTAGGGCGCTCGGGCATCCTGGGCGAGCTGCACAACAACATCTTCTGTGGTGTGGCCTGC c.780
V G R S G I L G E L H N N I F C G V A C p.260
. . . . . . g.18088
GGTCGGGGCCGGATGGCGGGCAGTACCTTCTGTGTGTCCTACTCGGGCCTCCTCTGCCAG c.840
G R G R M A G S T F C V S Y S G L L C Q p.280
. . . . | 08 . . g.21693
TTCAATGAGAAGAGGGTGCTGGAGAAGTGGATCAACCTGAAG | GTCTCCCTGTCTTCCTGC c.900
F N E K R V L E K W I N L K | V S L S S C p.300
. . . . . . g.21753
CTCTGTGTCAGCCAGGAGCTCATCTTCTGTGGCTGCACAGATGGGATAGTCCGCATCTTC c.960
L C V S Q E L I F C G C T D G I V R I F p.320
. . . . . . g.21813
CAGGCCCATAGCCTGCACTACCTCGCCAACCTGCCCAAGCCACACTACCTTGGGGTAGAC c.1020
Q A H S L H Y L A N L P K P H Y L G V D p.340
. . | 09 . . . . g.23498
GTGGCACAGGGCCTGGAGCCCAG | CTTCCTCTTCCACAGGAAGGCGGAAGCAGTCTACCCA c.1080
V A Q G L E P S | F L F H R K A E A V Y P p.360
. . . . . . g.23558
GATACAGTGGCACTGACCTTCGACCCCATCCACCAGTGGCTGTCCTGCGTGTATAAGGAC c.1140
D T V A L T F D P I H Q W L S C V Y K D p.380
. . . . . . g.23618
CACAGCATCTACATCTGGGATGTCAAGGACATCAACAGAGTGGGCAAGGTGTGGTCAGAG c.1200
H S I Y I W D V K D I N R V G K V W S E p.400
. . . | 10 . . . g.31579
CTCTTCCACAGCTCCTACGTTTGGAACGTGGAG | GTGTATCCTGAGTTTGAAGACCAGAGA c.1260
L F H S S Y V W N V E | V Y P E F E D Q R p.420
. . . . . . g.31639
GCTTGTTTGCCATCAGGATCCTTTCTGACTTGTTCTTCAGACAACACCATTCGCTTCTGG c.1320
A C L P S G S F L T C S S D N T I R F W p.440
. . . . . | 11 . g.33191
AACTTGGACAGCAGCCCTGATTCTCACTGGCAGAAAAACATCTTCAGCAAT | ACCCTGCTG c.1380
N L D S S P D S H W Q K N I F S N | T L L p.460
. . . . . . g.33251
AAGGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTTCCCAGAC c.1440
K V V Y V E N D I Q H L Q D M S H F P D p.480
. . . . . . g.33311
CGGGGGAGCGAGAATGGGACACCCATGGACGTGAAAGCCGGGGTGCGGGTCATGCAGGTC c.1500
R G S E N G T P M D V K A G V R V M Q V p.500
. . . . . | 12 . g.34782
AGTCCTGACGGCCAGCATTTGGCTTCAGGCGACCGAAGTGGAAATCTGAG | GATCCACGAG c.1560
S P D G Q H L A S G D R S G N L R | I H E p.520
. . . . . . g.34842
CTGCACTTCATGGACGAGCTGGTCAAGGTGGAGGCCCATGATGCTGAGGTGCTGTGCCTG c.1620
L H F M D E L V K V E A H D A E V L C L p.540
. . | 13 . . . . g.36844
GAGTACTCCAAGCCAGAGACGG | GGCTGACCTTGCTGGCCTCAGCCAGTCGGGACCGGCTG c.1680
E Y S K P E T G | L T L L A S A S R D R L p.560
. . . . . . g.36904
ATCCATGTGCTGAACGTGGAGAAGAACTACAACCTGGAGCAGACGCTGGATGACCACTCC c.1740
I H V L N V E K N Y N L E Q T L D D H S p.580
. . | 14 . . . g.39189
TCCTCCATCACCGCCATCAAGTTCGCTG | GCAACAGAGACATCCAGATGATCAGCTGTGGG c.1800
S S I T A I K F A G | N R D I Q M I S C G p.600
. . . | 15 . . . g.39328
GCTGACAAGAGCATCTACTTTCGCAGTGCCCAGCAG | GGTTCGGATGGACTACACTTTGTC c.1860
A D K S I Y F R S A Q Q | G S D G L H F V p.620
. . . . . . g.39388
CGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAG c.1920
R T H H V A E K T T L Y D M D I D I T Q p.640
. . . | 16 . . g.40586
AAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAG | AGTCTACAACACTGTGAACGGG c.1980
K Y V A V A C Q D R N V R | V Y N T V N G p.660
. . . . . | 17 . g.41325
AAGCAGAAGAAGTGCTACAAGGGCTCCCAGGGTGACGAAGGGTCCTTGCTGAAG | GTCCAT c.2040
K Q K K C Y K G S Q G D E G S L L K | V H p.680
. . . . . . g.41385
GTGGACCCCTCAGGCACCTTCCTGGCCACCAGCTGCTCTGACAAAAGCATCTCAGTGATT c.2100
V D P S G T F L A T S C S D K S I S V I p.700
. . . . | 18 . . g.41535
GACTTTTACTCGGGCGAGTGCATTGCCAAGATGTTTGGCCATTCAG | AAATTATTACCAGC c.2160
D F Y S G E C I A K M F G H S E | I I T S p.720
. . . . . | 19 . g.42818
ATGAAGTTCACCTATGACTGTCATCACTTGATCACAGTATCTGGAGACAG | CTGCGTGTTC c.2220
M K F T Y D C H H L I T V S G D S | C V F p.740
. . . . . . g.42878
ATCTGGCACCTGGGCCCGGAGATCACCAACTGCATGAAGCAGCACTTGCTGGAGATTGAC c.2280
I W H L G P E I T N C M K Q H L L E I D p.760
. . . . . | 20 . g.44157
CACCGGCAGCAGCAGCAGCACACAAATGACAAGAAGCGGAGTGGCCACCCCAG | GCAGGAT c.2340
H R Q Q Q Q H T N D K K R S G H P R | Q D p.780
. . . . . . g.44217
ACGTATGTGTCCACACCTAGTGAGATTCACTCCCTGAGCCCTGGAGAGCAAACAGAGGAT c.2400
T Y V S T P S E I H S L S P G E Q T E D p.800
. . . . . . g.44277
GATCTGGAGGAAGAGTGTGAGCCAGAAGAGATGCTGAAGACACCATCCAAAGATAGCTTG c.2460
D L E E E C E P E E M L K T P S K D S L p.820
| 21. . . . . . g.47199
GATCCAG | ATCCTCGTTGCCTGCTAACCAACGGCAAGCTGCCACTGTGGGCAAAGCGGCTG c.2520
D P D | P R C L L T N G K L P L W A K R L p.840
| 22 . . . . . . g.49578
| CTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCC c.2580
| L G D D D V A D G L A F H A K R S Y Q P p.860
. . . . . . g.49638
CACGGCCGCTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAG c.2640
H G R W A E R A G Q E P L K T I L D A Q p.880
. . . . . . g.49698
GACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGAT c.2700
D L D C Y F T P M K P E S L E N S I L D p.900
. . . | 23 . . g.50888
TCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAG | TCAGAGAGTCCCCAGGAAGCT c.2760
S L E P Q S L A S L L S E | S E S P Q E A p.920
. . . . . . g.50948
GGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTC c.2820
G R G H P S F L P Q Q K E S S E A S E L p.940
. . . . | 24. . g.51346
ATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGACAG | CCAGTATTGCAGG c.2880
I L Y S L E A E V T V T G T D S | Q Y C R p.960
. . . . . . g.51406
AAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCC c.2940
K E V E A G P G D Q Q G D S Y L R V S S p.980
. . . | 25 . . . g.51812
GACAGCCCAAAGGACCAGAGCCCGCCTGAGG | ACTCGGGGGAGTCAGAGGCCGACCTGGAG c.3000
D S P K D Q S P P E D | S G E S E A D L E p.1000
. . . . . . g.51872
TGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCC c.3060
C S F A A I H S P A P P P D P A P R F A p.1020
. . | 26 . . . . g.52171
ACGTCGCTGCCCCATTTCCCAG | GATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCC c.3120
T S L P H F P G | C A G P T E D E L S L P p.1040
. . . . . . g.52231
GAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTC c.3180
E G P S V P S S S L P Q T P E Q E K F L p.1060
. . . . | 27 . . g.52876
CGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAG | AGCTCTTCCCCGCAGCTCTG c.3240
R H H F E T L T E S P C R E | L F P A A L p.1080
. . . . . . g.52936
GGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCC c.3300
G D V E A S E A E D H F F N P R L S I S p.1100
. . . | 28 . . . g.53092
ACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAG | GTTCACCCATACCTTCCCTCCCCGG c.3360
T Q F L S S L Q K A S R | F T H T F P P R p.1120
. . . . . . g.53152
GCAACCCAGTGCCTTGTGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAG c.3420
A T Q C L V K S P E V K L M D R G G S Q p.1140
. . . . | 29 . . g.53293
CCCAGAGCAGGTACTGGCTACGCCTCCCCAGACAGGACCCAC | GTCCTCGCTGCAGGGAAG c.3480
P R A G T G Y A S P D R T H | V L A A G K p.1160
. . . | 30 . . . g.53488
GCTGAAGAGACCCTGGAGGCCTGGCGCCCACCAC | CTCCCTGCCTTACGAGCCTGGCGTCC c.3540
A E E T L E A W R P P P | P C L T S L A S p.1180
. . . . . . g.53548
TGTGTCCCTGCTTCCTCCGTGCTGCCCACAGACAGGAATCTCCCAACGCCCACATCTGCA c.3600
C V P A S S V L P T D R N L P T P T S A p.1200
. . . . . . g.53608
CCCACCCCAGGCCTGGCTCAGGGTGTCCATGCCCCCTCCACCTGTTCCTACATGGAGGCC c.3660
P T P G L A Q G V H A P S T C S Y M E A p.1220
. . . . . . g.53668
ACTGCCAGCTCCCGTGCCAGGATATCACGCAGCATCTCCCTCGGTGACAGTGAGGGCCCT c.3720
T A S S R A R I S R S I S L G D S E G P p.1240
. . . . . . g.53728
ATCGTGGCCACACTGGCCCAGCCCCTCCGTAGGCCATCGTCCGTTGGGGAGCTGGCCTCC c.3780
I V A T L A Q P L R R P S S V G E L A S p.1260
. . . . . . g.53788
TTGGGCCAGGAGCTTCAGGCCATCACCACCGCGACAACACCCAGTTTGGACAGTGAGGGC c.3840
L G Q E L Q A I T T A T T P S L D S E G p.1280
. . . . . . g.53848
CAAGAGCCTGCCCTGCGTTCCTGGGGCAACCACGAGGCCCGGGCCAACCTGAGACTGACC c.3900
Q E P A L R S W G N H E A R A N L R L T p.1300
. . . . . . g.53908
CTGTCAAGTGCCTGTGATGGGCTCCTGCAGCCCCCCGTGGATACCCAGCCTGGCGTCACC c.3960
L S S A C D G L L Q P P V D T Q P G V T p.1320
. . . . . . g.53968
GTCCCTGCAGTGAGCTTCCCAGCCCCTAGCCCTGTGGAAGAGAGCGCCCTGAGGCTCCAC c.4020
V P A V S F P A P S P V E E S A L R L H p.1340
. . . . . . g.54028
GGCTCTGCCTTTCGCCCAAGTCTCCCAGCTCCTGAGTCCCCTGGCCTTCCTGCCCACCCC c.4080
G S A F R P S L P A P E S P G L P A H P p.1360
. . . . . . g.54088
AGTAACCCCCAGCTTCCAGAGGCCCGGCCTGGCATCCCTGGCGGCACTGCCTCCCTCCTG c.4140
S N P Q L P E A R P G I P G G T A S L L p.1380
. | 31 . . . . . g.54684
GAGCCCACCTCCG | GTGCACTTGGTCTGTTACAGGGCAGCCCTGCCCGCTGGAGTGAGCCC c.4200
E P T S G | A L G L L Q G S P A R W S E P p.1400
. . . . . . g.54744
TGGGTGCCGGTTGAAGCCCTGCCCCCATCTCCCCTTGAGCTGAGCAGGGTGGGGAACATC c.4260
W V P V E A L P P S P L E L S R V G N I p.1420
. . . . . | 32 . g.54896
TTGCACAGGCTGCAGACCACCTTCCAAGAAGCCCTCGACCTTTACCGTGTG | TTGGTCTCC c.4320
L H R L Q T T F Q E A L D L Y R V | L V S p.1440
. . . . . . g.54956
AGTGGCCAGGTGGACACCGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTCCTG c.4380
S G Q V D T G Q Q Q A R T E L V S T F L p.1460
. . . . . . g.55016
TGGATCCACAGCCAGCTGGAGGCTGAATGCCTGGTGGGGACTAGTGTGGCCCCAGCCCAG c.4440
W I H S Q L E A E C L V G T S V A P A Q p.1480
. . . . . . g.55076
GCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGGCCAGCCCAGAC c.4500
A L P S P G P P S P P T L Y P L A S P D p.1500
. . . . . . g.55136
CTGCAGGCCCTGCTGGAACACTACTCGGAGCTGCTGGTGCAGGCCGTGCGGAGGAAGGCA c.4560
L Q A L L E H Y S E L L V Q A V R R K A p.1520
. g.55148
CGGGGGCACTGA c.4572
R G H X p.1523
. . . . . . g.55208
gggcgcagcccctccaccgcagccctgctgcttctgaggacttaggtattttaagcgaat c.*60
. . g.55230
aaactgacagctttgaggaatg c.*82
(downstream sequence)
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