(used for variant description)
(last modified January 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018451.3 in the CENPJ gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009165.1, covering CENPJ transcript NM_018451.3.
(upstream sequence)
. g.5013
agtttcactgggc c.-241
. . . . . . g.5073
tcagcggtgcctgcgctttagcgcagacgcgcgggtgagatcctcacttcccacaggacc c.-181
. . . . . . g.5133
tcgggacgggggcggggctccgacagaggcggcgattgtggcggcccatttgtaaatgct c.-121
. . . . . . | 02 g.14862
gcggagattgaggtgtcggttcgtgctgctgagctgcccaggcttcacggagcg | gtgttg c.-61
. . . . . . g.14922
gaaatcaatagctcttctagcctttgcattgtttaaatataatagtgtcattggactaag c.-1
. . . . . . g.14982
ATGTTCCTGATGCCAACCTCTTCAGAGTTAAACAGTGGGCAGAACTTCCTAACCCAGTGG c.60
M F L M P T S S E L N S G Q N F L T Q W p.20
. . . . . . g.15042
ATGACCAATCCTTCTCGGGCTGGGGTCATATTAAATCGTGGATTTCCTATTTTGGAAGCA c.120
M T N P S R A G V I L N R G F P I L E A p.40
. . . . . . g.15102
GACAAAGAGAAGCGAGCAGCTGTGGACATTTCTACCAGCTTTCCTATTAAAGGCACACAT c.180
D K E K R A A V D I S T S F P I K G T H p.60
. . . . . . g.15162
TTTTCTGATAGCTTCAGCTTTATAAATGAAGAAGATTCACTTCTTGAAGAACAGAAGTTG c.240
F S D S F S F I N E E D S L L E E Q K L p.80
. . . . . . g.15222
GAGTCAAACAACCCTTACAAACCACAGTCAGATAAATCTGAAACCCATACAGCCTTTCCT c.300
E S N N P Y K P Q S D K S E T H T A F P p.100
. . . . . . g.15282
TGCATTAAAAAGGGACCACAGGTAGCGGCATGTCACAGTGCTCCTGGACACCAGGAAGAA c.360
C I K K G P Q V A A C H S A P G H Q E E p.120
. . . . . . g.15342
AACAAAAATGACTTCATCCCAGATCTTGCGAGTGAATTCAAAGAAGGGGCTTATAAAGAC c.420
N K N D F I P D L A S E F K E G A Y K D p.140
. . | 03 . . . . g.15914
CCACTTTTTAAAAAACTTGAACAG | CTGAAAGAAGTACAACAGAAGAAGCAGGAACAATTG c.480
P L F K K L E Q | L K E V Q Q K K Q E Q L p.160
. . . . . . g.15974
AAGAGGCAACAGTTGGAGCAACTACAGAGACTCATGGAAGAACAAGAGAAGCTGCTCACC c.540
K R Q Q L E Q L Q R L M E E Q E K L L T p.180
. . | 04 . . . g.17893
ATGGTGTCTGGGCAGTGCACACTTCCAG | GTTTGAGTTTACTGCCTGATGATCAGAGCCAG c.600
M V S G Q C T L P G | L S L L P D D Q S Q p.200
. . . . . . g.17953
AAGCACAGGTCTCCAGGAAATACCACCACTGGAGAGAGAGCCACATGCTGCTTCCCATCA c.660
K H R S P G N T T T G E R A T C C F P S p.220
. . . . . . g.18013
TATGTCTACCCGGACCCAACCCAGGAAGAAACATACCCGTCCAACATTTTATCCCATGAG c.720
Y V Y P D P T Q E E T Y P S N I L S H E p.240
. . . . . . g.18073
CAAAGCAACTTCTGTAGAACTGCTCATGGAGATTTTGTCTTAACTTCAAAACGTGCGTCT c.780
Q S N F C R T A H G D F V L T S K R A S p.260
. . . . . . g.18133
CCTAATTTATTTTCTGAGGCACAGTATCAAGAAGCACCTGTGGAAAAAAATAATTTAAAA c.840
P N L F S E A Q Y Q E A P V E K N N L K p.280
. . | 05 . . . . g.19856
GAAGAAAACCGTAACCATCCTACAG | GAGAAAGTATCTTATGTTGGGAGAAAGTGACAGAA c.900
E E N R N H P T G | E S I L C W E K V T E p.300
. . . . . . g.19916
CAGATTCAGGAAGCAAATGATAAGAACTTACAAAAACATGATGATTCCTCAGAAGTGGCT c.960
Q I Q E A N D K N L Q K H D D S S E V A p.320
. | 06 . . . . . g.20800
AATATTGAAGAAAG | GCCCATTAAAGCTGCTATTGGAGAAAGGAAACAGACCTTTGAAGAT c.1020
N I E E R | P I K A A I G E R K Q T F E D p.340
. . . . . | 07. g.20990
TACTTAGAAGAACAAATTCAGTTGGAAGAGCAAGAACTGAAGCAAAAACAGCTGAAG | GAA c.1080
Y L E E Q I Q L E E Q E L K Q K Q L K | E p.360
. . . . . . g.21050
GCAGAAGGACCATTGCCAATCAAAGCAAAACCAAAACAACCATTTTTAAAACGAGGAGAA c.1140
A E G P L P I K A K P K Q P F L K R G E p.380
. . . . . . g.21110
GGTTTAGCTAGATTTACTAATGCCAAATCTAAGTTTCAAAAAGGCAAAGAAAGTAAACTA c.1200
G L A R F T N A K S K F Q K G K E S K L p.400
. . . . . . g.21170
GTGACTAACCAGAGCACTTCCGAGGACCAGCCGCTGTTTAAAATGGATAGACAGCAACTC c.1260
V T N Q S T S E D Q P L F K M D R Q Q L p.420
. . . . . . g.21230
CAGCGGAAAACCGCTCTTAAAAATAAAGAGCTGTGTGCAGACAACCCTATCCTTAAAAAG c.1320
Q R K T A L K N K E L C A D N P I L K K p.440
. . . . . . g.21290
GACAGTAAAGCTAGAACCAAGAGTGGTTCTGTCACCCTCAGTCAGAAGCCGAAAATGCTG c.1380
D S K A R T K S G S V T L S Q K P K M L p.460
. . . . . . g.21350
AAGTGTAGTAACAGGAAAAGTCTTTCTCCGTCAGGATTGAAAATACAGACGGGGAAGAAA c.1440
K C S N R K S L S P S G L K I Q T G K K p.480
. . . . . . g.21410
TGTGATGGGCAGTTTAGAGACCAGATCAAATTTGAAAACAAAGTCACATCTAATAATAAA c.1500
C D G Q F R D Q I K F E N K V T S N N K p.500
. . . . . . g.21470
GAAAATGTAACTGAGTGTCCAAAACCTTGCGATACTGGCTGCACAGGGTGGAATAAGACA c.1560
E N V T E C P K P C D T G C T G W N K T p.520
. . . . . . g.21530
CAAGGTAAAGACAGACTTCCTCTTTCAACAGGGCCGGCCAGCCGGCTGGCTGCTAAGAGC c.1620
Q G K D R L P L S T G P A S R L A A K S p.540
. . . . . . g.21590
CCCATAAGGGAGACCATGAAAGAGTCTGAATCTTCTCTTGACGTTTCTCTTCAGAAAAAG c.1680
P I R E T M K E S E S S L D V S L Q K K p.560
. . . . . . g.21650
TTAGAGACTTGGGAACGAGAAAAGGAAAAGGAAAATTTGGAATTAGATGAATTTTTGTTT c.1740
L E T W E R E K E K E N L E L D E F L F p.580
. . . . . . g.21710
TTAGAACAAGCTGCTGATGAAATATCATTTTCTAGTAATTCCTCATTTGTACTGAAAATC c.1800
L E Q A A D E I S F S S N S S F V L K I p.600
. . . . . . g.21770
TTAGAAAGGGATCAACAGATCTGCAAAGGTCACCGGATGTCTTCCACCCCTGTCAAAGCT c.1860
L E R D Q Q I C K G H R M S S T P V K A p.620
. . . . . . g.21830
GTGCCACAGAAGACAAATCCGGCAGATCCCATTAGTCATTGTAACCGCAGTGAGGATTTG c.1920
V P Q K T N P A D P I S H C N R S E D L p.640
. . . . . . g.21890
GACCACACTGCACGTGAGAAGGAGAGTGAGTGTGAAGTCGCACCCAAACAACTTCATTCA c.1980
D H T A R E K E S E C E V A P K Q L H S p.660
. . . . . . g.21950
TTGTCCTCAGCTGATGAATTGAGGGAACAGCCTTGTAAAATCAGGAAAGCCGTCCAAAAG c.2040
L S S A D E L R E Q P C K I R K A V Q K p.680
. . . . . . g.22010
AGCACTTCTGAAAATCAGACTGAATGGAATGCACGTGACGATGAAGGTGTTCCAAATAGT c.2100
S T S E N Q T E W N A R D D E G V P N S p.700
. . . . . . g.22070
GACAGTAGCACTGACTCTGAGGAACAGCTTGATGTTACCATAAAACCATCGACTGAGGAT c.2160
D S S T D S E E Q L D V T I K P S T E D p.720
. . . . . . g.22130
AGAGAGAGGGGCATCAGCAGCAGAGAGGATAGCCCACAAGTCTGTGATGATAAGGGGCCT c.2220
R E R G I S S R E D S P Q V C D D K G P p.740
. . . . . . g.22190
TTTAAGGACACCAGGACCCAAGAAGATAAAAGGAGAGATGTTGATCTGGATTTGTCTGAT c.2280
F K D T R T Q E D K R R D V D L D L S D p.760
. . . . . . g.22250
AAAGATTACAGTAGCGATGAGTCTATCATGGAAAGCATAAAACATAAAGTGTCTGAGCCC c.2340
K D Y S S D E S I M E S I K H K V S E P p.780
. . . . . . g.22310
TCGAGATCCTCATCCCTAAGTCTGAGTAAAATGGACTTTGATGATGAAAGAACTTGGACT c.2400
S R S S S L S L S K M D F D D E R T W T p.800
. . . . . . g.22370
GACCTTGAAGAGAATTTGTGTAACCATGATGTTGTTCTTGGGAATGAATCCACTTATGGG c.2460
D L E E N L C N H D V V L G N E S T Y G p.820
. . . . . . g.22430
ACGCCGCAGACATGCTACCCTAATAATGAAATAGGTATCCTGGACAAAACAATAAAAAGG c.2520
T P Q T C Y P N N E I G I L D K T I K R p.840
. . . . . . g.22490
AAGATTGCACCAGTCAAGAGGGGAGAAGACTTGAGCAAGTCCAGGAGGAGCAGAAGTCCT c.2580
K I A P V K R G E D L S K S R R S R S P p.860
. . . . . . g.22550
CCTACATCGGAGCTGATGATGAAATTCTTTCCTTCTTTGAAACCAAAACCAAAGTCAGAT c.2640
P T S E L M M K F F P S L K P K P K S D p.880
. . . . . | 08 . g.23897
TCACACTTGGGAAATGAACTCAAGTTAAACATAAGTCAAGACCAACCACCTG | GTGACAAT c.2700
S H L G N E L K L N I S Q D Q P P G | D N p.900
. . . . . . g.23957
GCTCGATCCCAGGTTTTGAGAGAGAAAATTATTGAATTGGAAACAGAAATAGAAAAGTTT c.2760
A R S Q V L R E K I I E L E T E I E K F p.920
. . . . . . g.24017
AAAGCTGAGAACGCATCTTTAGCTAAACTTCGCATTGAACGAGAAAGTGCCTTGGAAAAA c.2820
K A E N A S L A K L R I E R E S A L E K p.940
| 09 . . . . . . g.28418
CTCAG | GAAAGAAATTGCAGACTTCGAACAACAGAAAGCAAAAGAATTAGCTCGAATAGAA c.2880
L R | K E I A D F E Q Q K A K E L A R I E p.960
. . . . . . g.28478
GAGTTTAAAAAGGAGGAGATGAGGAAGCTACAAAAGGAACGTAAAGTTTTTGAAAAGTAT c.2940
E F K K E E M R K L Q K E R K V F E K Y p.980
. . . . . | 10 . g.35089
ACTACAGCTGCAAGAACTTTTCCAGATAAAAAGGAACGTGAAGAAATACAG | ACTTTAAAA c.3000
T T A A R T F P D K K E R E E I Q | T L K p.1000
. . . . . . g.35149
CAGCAAATAGCAGATTTACGGGAAGATTTGAAAAGAAAGGAAACCAAATGGTCAAGTACA c.3060
Q Q I A D L R E D L K R K E T K W S S T p.1020
. . . . . . g.35209
CACAGCCGTCTCAGAAGCCAGATACAAATGTTAGTCAGAGAGAACACAGACCTCCGGGAA c.3120
H S R L R S Q I Q M L V R E N T D L R E p.1040
. . . . . . g.35269
GAAATAAAAGTGATGGAAAGATTCCGACTGGATGCCTGGAAGAGAGCAGAAGCCATAGAG c.3180
E I K V M E R F R L D A W K R A E A I E p.1060
. . . | 11 . . . g.38571
AGCAGCCTCGAGGTGGAGAAGAAGGACAAGCTTGCG | AACACATCTGTTCGATTTCAAAAC c.3240
S S L E V E K K D K L A | N T S V R F Q N p.1080
. . . . . . g.38631
AGTCAGATTTCTTCAGGAACCCAGGTAGAAAAATACAAGAAAAATTATCTTCCAATGCAA c.3300
S Q I S S G T Q V E K Y K K N Y L P M Q p.1100
| 12 . . . . . . g.42336
G | GCAATCCACCTCGAAGATCCAAGTCTGCACCTCCTCGTGATTTAGGCAATTTGGATAAG c.3360
G | N P P R R S K S A P P R D L G N L D K p.1120
| 13 . . . . . . g.42615
GGACAA | GCTGCCTCTCCCAGGGAGCCACTTGAACCACTGAACTTCCCAGATCCTGAATAT c.3420
G Q | A A S P R E P L E P L N F P D P E Y p.1140
. . . . . | 14. g.43487
AAAGAGGAGGAGGAAGACCAAGACATACAGGGAGAAATCAGTCATCCTGATGGAAAG | GTG c.3480
K E E E E D Q D I Q G E I S H P D G K | V p.1160
. . . . . . g.43547
GAAAAGGTTTATAAGAATGGGTGCCGTGTTATACTGTTTCCCAATGGAACTCGAAAGGAA c.3540
E K V Y K N G C R V I L F P N G T R K E p.1180
. . . . . . g.43607
GTGAGTGCAGATGGGAAGACCATCACTGTCACTTTCTTTAATGGTGACGTGAAGCAGGTC c.3600
V S A D G K T I T V T F F N G D V K Q V p.1200
. | 15 . . . . g.43744
ATGCCAGACCAAAGAGTG | ATCTACTACTATGCAGCTGCCCAGACCACTCACACGACATAC c.3660
M P D Q R V | I Y Y Y A A A Q T T H T T Y p.1220
. . . . | 16 . . g.43881
CCGGAGGGACTGGAAGTCTTACATTTCTCAAGTGGACAAATAG | AAAAACATTACCCAGAT c.3720
P E G L E V L H F S S G Q I E | K H Y P D p.1240
. . . . . . g.43941
GGAAGAAAAGAAATCACGTTTCCTGACCAGACTGTTAAAAACTTATTTCCTGATGGACAA c.3780
G R K E I T F P D Q T V K N L F P D G Q p.1260
. . . . | 17 . . g.44594
GAAGAAAGCATTTTCCCAGATGGTACAATTGTCAGAGTACAACG | TGATGGCAACAAACTC c.3840
E E S I F P D G T I V R V Q R | D G N K L p.1280
. . . . . . g.44654
ATAGAGTTTAATAATGGCCAAAGAGAACTACATACTGCCCAGTTCAAGAGACGGGAATAC c.3900
I E F N N G Q R E L H T A Q F K R R E Y p.1300
. . . . . . g.44714
CCAGATGGCACTGTTAAAACCGTATATGCAAACGGTCATCAAGAAACGAAGTACAGATCC c.3960
P D G T V K T V Y A N G H Q E T K Y R S p.1320
. . . . . g.44771
GGTCGGATAAGAGTTAAGGACAAGGAGGGTAATGTGCTAATGGACACGGAGCTGTGA c.4017
G R I R V K D K E G N V L M D T E L X p.1338
. . . . . . g.44831
cgatcctcatgtgatcatgaagtaacagtaactgactttttatgttaaaaaatgtacatt c.*60
. . . . . . g.44891
tactgtggattctgtttaatttattgtgtatgtgtggggaaaagattagattctaaaata c.*120
. . . . . . g.44951
aaagtttaccctgtggcatcttcatttttatattctttgaaatgcaatgatagctctcat c.*180
. . . . . . g.45011
ttataattcactaccctgtctttcaatagactaaggaaagcattttgactgtttagaaat c.*240
. . . . . . g.45071
tgtgtacaggtttttacagtaagtgggtgtgtttattggttagaaatggctataaaaaaa c.*300
. . . . . . g.45131
aaccaagaagtacaggaagtacatcacctagatgtcccacagacacatcagccgtagagc c.*360
. . . . . . g.45191
actggacttgtacagaaggtgtactcaaggagtaaacacgtgtctctgtagccaaaatat c.*420
. . . . . . g.45251
tactatgttcagttagtaccaaaattagaccatttgatcttctacagaggatcattaatt c.*480
. . . . . . g.45311
attataacagaatgggaagttacaacagtggatgaatataaataggtcacacacaacagg c.*540
. . . . . . g.45371
tagtaatcatggtgaagagaaagcagttataacaaggctgactttgtaatgtaatgtctc c.*600
. . . . . . g.45431
aaaatgggatacttgagagtggaggggggcatgaacgatgactagccagtgttaacccat c.*660
. . . . . . g.45491
ggaccacagctaccctgatgttaccacagtgagattactgtagcctcatggaagcaagat c.*720
. . . . . . g.45551
gtccctgaaggatgggcaagtcacttacttacttacttgtaaatttatataataaataat c.*780
. . . . . . g.45611
tacagattggtctagatagaccttacctgtcacatatactatgaatcaggttttgttaat c.*840
. . . . . . g.45671
gaaatctatcaattccaggtgacttaactgaatatgaaaaataaaactttttgaagaata c.*900
g.45674
taa c.*903
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center