(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004187.3 in the KDM5C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering KDM5C transcript NM_004187.3.
(upstream sequence)
. . . . . g.5053
cttgttcctccgccgttgcaatgaactattttctctcagtccggggtggtact c.-481
. . . . . . g.5113
tttgagtaaccccttccaaatagaaacccataccagcctatttagctcggtctccactat c.-421
. . . . . . g.5173
atgaaggtttcctagggcttggtgtgacgcaacgtatacgaggctcggaaggacaccccg c.-361
. . . . . . g.5233
cggaaggatccggtttgttgtggtgtggggaggggagacgctgacaaaccaagatggcgg c.-301
. . . . . . g.5293
cggcggcgctgaaggccgcggcgtttgggaggtaactgtggtggcgaaggctgcggtagt c.-241
. . . . . . g.5353
ggggaggcaaccacacagtttggaagaaacggagcgggacgaagaggcggtagcagtaga c.-181
. . . . . . g.5413
gtcagcctgagactctcagagcacgacggccacacgcccccttaggccctcggcgggcgg c.-121
. . . . . . g.5473
cggctgccccgcttagggcctagcctccgagcattgcctcggcttcaaacagcggcggcg c.-61
. . . . . . g.5533
ccatgagtccttaagggcggtccaagcctcccgatccctggcccagacctcgggcccacc c.-1
. . . . . . g.5593
ATGGAGCCGGGGTCCGACGATTTCCTACCGCCACCGGAGTGCCCGGTGTTCGAGCCTAGC c.60
M E P G S D D F L P P P E C P V F E P S p.20
. . . . . . g.5653
TGGGCCGAGTTCCGAGACCCTCTTGGCTACATCGCGAAAATCAGGCCCATCGCAGAGAAA c.120
W A E F R D P L G Y I A K I R P I A E K p.40
. . . | 02 . . . g.9536
TCGGGCATTTGCAAGATCCGCCCACCCGCG | GACTGGCAGCCACCCTTTGCTGTGGAAGTG c.180
S G I C K I R P P A | D W Q P P F A V E V p.60
. . . . | 03 . g.12036
GACAACTTCAGGTTTACCCCCCGAATCCAGAGGCTGAATGAGCTAGAG | GCCCAGACGAGA c.240
D N F R F T P R I Q R L N E L E | A Q T R p.80
. . . . . . g.12096
GTGAAACTGAACTACTTGGACCAGATTGCCAAATTCTGGGAAATCCAGGGCTCCTCCTTA c.300
V K L N Y L D Q I A K F W E I Q G S S L p.100
. . . . . | 04 . g.12465
AAGATTCCCAATGTAGAACGGCGGATCTTGGACCTCTACAGTCTCAGCAAA | ATTGTGGTG c.360
K I P N V E R R I L D L Y S L S K | I V V p.120
. . . . . . g.12525
GAGGAAGGTGGTTATGAAGCTATCTGCAAGGACCGTCGGTGGGCTCGGGTAGCCCAGCGC c.420
E E G G Y E A I C K D R R W A R V A Q R p.140
. . . . . . g.12585
CTCAACTATCCACCAGGCAAAAATATTGGCTCCTTGCTACGCTCCCACTACGAACGCATT c.480
L N Y P P G K N I G S L L R S H Y E R I p.160
. . . . | 05 . . g.13163
GTTTATCCCTATGAAATGTACCAGTCTGGAGCCAACCTTGTG | CAGTGTAACACACGTCCA c.540
V Y P Y E M Y Q S G A N L V | Q C N T R P p.180
. . . . . . g.13223
TTTGATAATGAGGAGAAGGACAAGGAATACAAACCCCACAGCATCCCCCTACGACAGTCT c.600
F D N E E K D K E Y K P H S I P L R Q S p.200
. . . . . | 06. g.14228
GTGCAGCCTTCCAAGTTCAACAGCTATGGCCGGCGGGCCAAGAGACTGCAGCCTGAT | CCG c.660
V Q P S K F N S Y G R R A K R L Q P D | P p.220
. . . . . . g.14288
GAACCCACAGAGGAAGACATTGAGAAGAATCCAGAGCTGAAAAAGCTACAGATCTATGGG c.720
E P T E E D I E K N P E L K K L Q I Y G p.240
. . . . . . g.14348
GCAGGCCCCAAGATGATGGGCCTGGGCCTCATGGCCAAAGACAAGACTCTGCGGAAGAAA c.780
A G P K M M G L G L M A K D K T L R K K p.260
| 07 . . . . . . g.14505
G | ATAAGGAGGGGCCTGAGTGTCCCCCCACAGTAGTGGTGAAGGAGGAGTTAGGTGGGGAT c.840
D | K E G P E C P P T V V V K E E L G G D p.280
. . . . . . g.14565
GTGAAGGTGGAGTCAACATCGCCTAAGACCTTCCTGGAGAGCAAGGAGGAGCTGAGTCAC c.900
V K V E S T S P K T F L E S K E E L S H p.300
. . . . . . g.14625
AGCCCAGAACCCTGCACCAAGATGACCATGAGGCTACGGAGGAACCACAGCAATGCCCAG c.960
S P E P C T K M T M R L R R N H S N A Q p.320
| 08 . . . . . . g.15632
TTT | ATTGAGTCATATGTCTGCCGGATGTGTTCTCGAGGGGATGAGGATGACAAGCTCCTG c.1020
F | I E S Y V C R M C S R G D E D D K L L p.340
. . . . . . g.15692
CTGTGTGATGGCTGTGATGACAACTACCACATCTTCTGCCTGCTGCCTCCTCTGCCTGAG c.1080
L C D G C D D N Y H I F C L L P P L P E p.360
. . . . | 09 . . g.18534
ATCCCCAAGGGTGTCTGGCGGTGCCCAAAGTGTGTCATGGCG | GAGTGTAAGCGGCCCCCA c.1140
I P K G V W R C P K C V M A | E C K R P P p.380
. . . . . . g.18594
GAAGCCTTTGGCTTTGAGCAGGCTACCCGGGAATACACTCTGCAGAGCTTTGGCGAGATG c.1200
E A F G F E Q A T R E Y T L Q S F G E M p.400
. . . . | 10 . . g.18785
GCCGACTCCTTTAAAGCTGACTACTTCAACATGCCCGTGCAT | ATGGTGCCCACAGAACTT c.1260
A D S F K A D Y F N M P V H | M V P T E L p.420
. . . . . . g.18845
GTGGAGAAGGAGTTCTGGAGGCTGGTAAATAGCATTGAGGAAGATGTGACTGTTGAGTAT c.1320
V E K E F W R L V N S I E E D V T V E Y p.440
. . . . . . g.18905
GGAGCTGACATCCATTCCAAAGAATTTGGCAGCGGTTTCCCTGTCAGTGACAGTAAACGG c.1380
G A D I H S K E F G S G F P V S D S K R p.460
. . | 11 . . . . g.19604
CACCTAACCCCCGAAGAGGAG | GAGTATGCTACCAGTGGTTGGAACCTAAATGTGATGCCG c.1440
H L T P E E E | E Y A T S G W N L N V M P p.480
. . . . . . g.19664
GTGTTGGAACAGTCTGTACTGTGCCACATCAATGCAGATATCTCTGGCATGAAGGTGCCC c.1500
V L E Q S V L C H I N A D I S G M K V P p.500
. . . . . . g.19724
TGGCTCTACGTGGGCATGGTCTTCTCAGCCTTTTGCTGGCATATTGAGGATCACTGGAGT c.1560
W L Y V G M V F S A F C W H I E D H W S p.520
. . | 12 . . . . g.19883
TACTCCATTAACTACCTCCACTG | GGGTGAGCCGAAGACCTGGTATGGGGTGCCCTCACTT c.1620
Y S I N Y L H W | G E P K T W Y G V P S L p.540
. . . . . . g.19943
GCAGCAGAACATTTGGAAGAAGTGATGAAGAAGCTGACACCTGAACTATTTGATAGCCAG c.1680
A A E H L E E V M K K L T P E L F D S Q p.560
. . . . . . g.20003
CCTGACCTCCTGCACCAACTTGTCACCCTCATGAATCCCAACACCCTCATGTCCCATGGT c.1740
P D L L H Q L V T L M N P N T L M S H G p.580
| 13 . . . . . . g.28503
GTGCCA | GTTGTCCGCACAAACCAGTGTGCAGGAGAGTTTGTCATCACCTTCCCCCGTGCT c.1800
V P | V V R T N Q C A G E F V I T F P R A p.600
. . . . . . g.28563
TACCACAGCGGCTTCAACCAAGGCTACAACTTTGCCGAGGCTGTCAACTTTTGCACTGCT c.1860
Y H S G F N Q G Y N F A E A V N F C T A p.620
| 14 . . . . . . g.28732
GACTGG | TTGCCTGCTGGGCGCCAGTGCATTGAGCACTACCGCCGGCTCCGGAGATACTGC c.1920
D W | L P A G R Q C I E H Y R R L R R Y C p.640
. . . . . . g.28792
GTCTTCTCCCATGAGGAGCTTATCTGCAAGATGGCTGCCTGCCCAGAGAAGCTAGACCTG c.1980
V F S H E E L I C K M A A C P E K L D L p.660
. . . . . . g.28852
AACCTGGCGGCAGCTGTGCATAAGGAGATGTTCATCATGGTGCAAGAAGAGCGGCGTCTA c.2040
N L A A A V H K E M F I M V Q E E R R L p.680
. . | 15 . . . . g.31303
CGAAAGGCCCTGCTGGAGAAG | GGTATCACAGAGGCTGAGCGAGAGGCTTTCGAGCTGCTC c.2100
R K A L L E K | G I T E A E R E A F E L L p.700
. . . . . . g.31363
CCAGATGATGAGCGCCAGTGTATCAAGTGCAAGACTACGTGTTTCCTGTCAGCCCTGGCC c.2160
P D D E R Q C I K C K T T C F L S A L A p.720
. . . . . . g.31423
TGCTACGACTGCCCAGACGGCCTTGTCTGCCTTTCCCACATCAATGATCTCTGCAAGTGC c.2220
C Y D C P D G L V C L S H I N D L C K C p.740
. . | 16 . . . . g.31571
TCCAGTAGCCGGCAGTACCTGCG | GTATCGGTATACCTTGGATGAGCTTCCTGCCATGCTG c.2280
S S S R Q Y L R | Y R Y T L D E L P A M L p.760
. . . . . . g.31631
CATAAGCTGAAGGTTCGGGCTGAGTCCTTTGACACCTGGGCCAACAAAGTGCGAGTGGCC c.2340
H K L K V R A E S F D T W A N K V R V A p.780
. . | 17 . . . g.31817
CTGGAGGTGGAGGATGGGCGGAAGCGCA | GCCTTGAAGAACTGAGGGCACTAGAGTCTGAA c.2400
L E V E D G R K R S | L E E L R A L E S E p.800
. . . . . . g.31877
GCCCGTGAGCGGAGGTTTCCTAATAGTGAGCTGCTGCAGCAACTAAAGAACTGCCTGAGT c.2460
A R E R R F P N S E L L Q Q L K N C L S p.820
. . . . . | 18 . g.32550
GAGGCAGAGGCTTGCGTGTCCCGAGCTCTGGGACTGGTCAGCGGCCAGGAAGCTGG | CCCC c.2520
E A E A C V S R A L G L V S G Q E A G | P p.840
. . . . . . g.32610
CACAGGGTGGCTGGTCTACAGATGACCCTGACTGAGCTCCGGGCCTTTCTGGACCAGATG c.2580
H R V A G L Q M T L T E L R A F L D Q M p.860
. . . . | 19 . . g.33396
AACAACCTGCCTTGCGCCATGCACCAGATTGGGGATGTCAAG | GGTGTTCTGGAACAGGTG c.2640
N N L P C A M H Q I G D V K | G V L E Q V p.880
. . . . . . g.33456
GAGGCCTACCAGGCTGAGGCTCGTGAGGCCCTGGCCTCACTGCCCTCCAGTCCAGGGCTA c.2700
E A Y Q A E A R E A L A S L P S S P G L p.900
. . . . . . g.33516
CTGCAGTCCCTGTTGGAGAGGGGGCGGCAGCTGGGGGTGGAGGTGCCTGAGGCCCAGCAG c.2760
L Q S L L E R G R Q L G V E V P E A Q Q p.920
. . . . . . g.33576
CTCCAGCGGCAGGTGGAACAGGCGCGATGGCTGGATGAGGTGAAACGCACACTGGCCCCC c.2820
L Q R Q V E Q A R W L D E V K R T L A P p.940
. . . . . . g.33636
TCAGCCCGAAGGGGCACCTTGGCTGTCATGCGAGGACTGTTGGTCGCGGGTGCCAGTGTA c.2880
S A R R G T L A V M R G L L V A G A S V p.960
. . . . . . g.33696
GCCCCTAGCCCTGCTGTGGATAAAGCCCAGGCCGAGCTGCAGGAACTGCTGACCATTGCT c.2940
A P S P A V D K A Q A E L Q E L L T I A p.980
. . . . | 20 . . g.34387
GAACGCTGGGAGGAGAAAGCCCACCTCTGCCTGGAGGCCAG | GCAGAAGCATCCACCAGCC c.3000
E R W E E K A H L C L E A R | Q K H P P A p.1000
. . . . . . g.34447
ACACTTGAGGCCATAATCCGTGAAGCGGAAAACATCCCTGTTCACCTGCCCAACATCCAG c.3060
T L E A I I R E A E N I P V H L P N I Q p.1020
. . . . . . g.34507
GCTCTCAAGGAGGCTCTTGCTAAGGCCCGGGCCTGGATTGCTGATGTTGATGAGATCCAA c.3120
A L K E A L A K A R A W I A D V D E I Q p.1040
| 21 . . . . . . g.35072
| AATGGTGACCACTACCCCTGCCTGGATGACTTGGAGGGCCTAGTAGCTGTGGGCCGGGAC c.3180
| N G D H Y P C L D D L E G L V A V G R D p.1060
. . . . . . g.35132
CTACCTGTGGGGCTGGAGGAGCTGAGACAGCTAGAGCTACAGGTACTGACAGCGCACTCC c.3240
L P V G L E E L R Q L E L Q V L T A H S p.1080
. . . . . . g.35192
TGGAGGGAGAAGGCCTCCAAGACCTTCCTCAAGAAAAATTCTTGCTACACGCTGCTGGAG c.3300
W R E K A S K T F L K K N S C Y T L L E p.1100
| 22 . . . . . . g.35414
| GTTCTCTGCCCATGTGCAGATGCCGGCTCAGACAGCACCAAGCGCAGCCGGTGGATGGAG c.3360
| V L C P C A D A G S D S T K R S R W M E p.1120
. . . . . . g.35474
AAGGAGCTGGGGTTGTACAAATCTGACACAGAGCTGCTGGGGCTGTCTGCGCAGGACCTC c.3420
K E L G L Y K S D T E L L G L S A Q D L p.1140
. | 23 . . . . g.35726
AGGGACCCAGGCTCTGTG | ATCGTGGCCTTCAAGGAGGGGGAACAGAAGGAGAAGGAGGGT c.3480
R D P G S V | I V A F K E G E Q K E K E G p.1160
. . . . . . g.35786
ATCCTGCAGCTGCGTCGCACCAATTCGGCCAAGCCCAGTCCACTGGCATCATCGAGCACG c.3540
I L Q L R R T N S A K P S P L A S S S T p.1180
. . . . . . g.35846
GCCTCCTCTACAACCTCTATCTGTGTGTGTGGGCAGGTGCTGGCTGGGGCGGGAGCTCTG c.3600
A S S T T S I C V C G Q V L A G A G A L p.1200
. . . . . . g.35906
CAGTGTGACCTGTGTCAGGACTGGTTCCATGGGCGGTGTGTGTCAGTGCCTCGCCTCCTC c.3660
Q C D L C Q D W F H G R C V S V P R L L p.1220
. . . . . . g.35966
AGCTCTCCGAGGCCCAATCCCACCTCATCCCCACTGCTGGCCTGGTGGGAATGGGACACC c.3720
S S P R P N P T S S P L L A W W E W D T p.1240
. . . . . . g.36026
AAATTCCTGTGTCCACTGTGTATGCGCTCAAGGCGCCCGCGCCTGGAGACCATCCTGGCA c.3780
K F L C P L C M R S R R P R L E T I L A p.1260
. . . . . . g.36086
CTGCTGGTAGCCCTGCAGAGACTGCCTGTGCGGCTGCCCGAGGGCGAGGCCCTGCAGTGC c.3840
L L V A L Q R L P V R L P E G E A L Q C p.1280
. . . . . . g.36146
CTCACAGAGAGGGCCATCAGCTGGCAAGGCCGCGCCAGGCAGGCTCTGGCCTCTGAAGAT c.3900
L T E R A I S W Q G R A R Q A L A S E D p.1300
. . . . . . g.36206
GTGACTGCTCTTTTGGGACGGCTGGCTGAGCTCCGCCAACGGCTACAGGCTGAACCTAGA c.3960
V T A L L G R L A E L R Q R L Q A E P R p.1320
. . . . . . g.36266
CCTGAGGAGCCTCCTAACTACCCTGCAGCCCCTGCTTCTGACCCCCTCAGAGAGGGCAGT c.4020
P E E P P N Y P A A P A S D P L R E G S p.1340
. | 24 . . . . g.36613
GGCAAGGATATGCCTAAG | GTCCAGGGCTTACTGGAGAATGGAGACAGTGTGACCAGTCCT c.4080
G K D M P K | V Q G L L E N G D S V T S P p.1360
. . . | 25. . . g.36809
GAGAAGGTAGCCCCGGAGGAGGGCTCAGGTAAGAGAG | ATCTGGAGCTGCTGTCCTCGCTG c.4140
E K V A P E E G S G K R D | L E L L S S L p.1380
. . . . . . g.36869
TTGCCACAGTTGACTGGCCCTGTGTTGGAACTGCCTGAGGCAACCCGGGCCCCCTTGGAG c.4200
L P Q L T G P V L E L P E A T R A P L E p.1400
. . . . . . g.36929
GAGCTCATGATGGAGGGGGACCTGCTCGAGGTGACCCTGGATGAGAACCACAGCATATGG c.4260
E L M M E G D L L E V T L D E N H S I W p.1420
. . . . . | 26. g.37093
CAGCTGCTGCAGGCTGGACAGCCCCCAGACCTGGAGAGGATCCGCACACTTCTGGAG | CTG c.4320
Q L L Q A G Q P P D L E R I R T L L E | L p.1440
. . . . . . g.37153
GAGAAGGCAGAGCGTCACGGGAGTCGGGCTCGGGGCCGGGCCCTGGAGAGGCGGCGGCGG c.4380
E K A E R H G S R A R G R A L E R R R R p.1460
. . . . . . g.37213
CGGAAGGTGGATCGGGGTGGGGAGGGCGATGACCCAGCCCGAGAGGAGCTAGAGCCAAAG c.4440
R K V D R G G E G D D P A R E E L E P K p.1480
. . . . . . g.37273
AGGGTACGGAGCTCAGGGCCAGAGGCTGAGGAGGTCCAGGAGGAGGAAGAGCTGGAGGAG c.4500
R V R S S G P E A E E V Q E E E E L E E p.1500
. . . . . . g.37333
GAGACTGGGGGTGAGGGCCCCCCTGCACCCATCCCCACCACTGGCAGCCCCAGCACCCAG c.4560
E T G G E G P P A P I P T T G S P S T Q p.1520
. . . . . . g.37393
GAGAACCAGAATGGCTTGGAACCGGCGGAAGGGACCACTTCAGGCCCCTCGGCCCCTTTC c.4620
E N Q N G L E P A E G T T S G P S A P F p.1540
. . . . . . g.37453
TCCACTCTGACTCCCCGGCTGCATCTGCCCTGCCCACAGCAGCCGCCTCAGCAACAGTTG c.4680
S T L T P R L H L P C P Q Q P P Q Q Q L p.1560
g.37456
TGA c.4683
X p.1560
. . . . . . g.37516
cagtggctgagcctagcacagaccctgacagagacccccctcggcctcaaggatcctctt c.*60
. . . . . . g.37576
tctgaccatcaagcctgcttcttggggggtgggcgggtaggggggtggccatccctgcta c.*120
. . . . . . g.37636
cccgcccacccctgagtcccttgacttttgtattctgactccaaggtattgttcagacct c.*180
. . . . . . g.37696
cagctcctgggggccggcccctggagtcttccctccctggtagcctctaaccagcattcc c.*240
. . . . . . g.37756
cagacacctgaggcagatagatggatgggctggtgggcaggggggtggctggggctgggc c.*300
. . . . . . g.37816
catcaccattccagagacaaggccagtgtatatgcaaactgggggactctcctcccttct c.*360
. . . . . . g.37876
ctccccagttctggtcctggccaggccatgctacactaacccctgcccccactctcctcc c.*420
. . . . . . g.37936
cctcttttccttccttcctacccccttctccctctcccttcccctgactgttccacccag c.*480
. . . . . . g.37996
gaggaggaaacttcacatagccgtgctcacagttttttattttaaaggaatttggctggg c.*540
. . . . . . g.38056
gagctgaacagggctccctgtgatctgaagaaagcttttggtgcttgtcctcacaaccac c.*600
. . . . . . g.38116
ctcagtcctccctccctgtcctcccctgtctcctttcctcctcctgggttcatgttgtaa c.*660
. . . . . . g.38176
taaaagaagattgttggtgtgtaattaatttgttcaaaagaaaaaaaaaagcaaaacaag c.*720
. . . . . . g.38236
aaacttggttccaactgaagcctattttaattttattttattattttcctcttgttagaa c.*780
. . . . . . g.38296
ataaaacccttagaaacattttttggaaacatgtttctgaagtgcatttctcttagacgg c.*840
. . . . . . g.38356
ggaagacagtgcttccatcaccagtcagtggagcagctgtagtgctggcaggagcactag c.*900
. . . . . . g.38416
ggctgaagccagggagctctgggttctgaaatcaagttccaccagcttcttaaccttggg c.*960
. . . . . . g.38476
caagacattctgatcctcccccgactctaaccccaagccactttccctcaagtccaaaca c.*1020
. . . . . . g.38536
gatgggctcgggccccctcacccaaactcctacactacaacctcccccagttgatgccct c.*1080
. . . . . . g.38596
ccagtttatcctcctcaagctcccaaagggatttttttgttaatggctttattgagatat c.*1140
. . . . . . g.38656
aatttacatactataaaattcacttgtttgaaatgtacaattcagtgatttggggggttt c.*1200
. . . . . . g.38716
ctaaagtgtagatctgattatatactgcttaaaaccttccatgatgctttattgccctta c.*1260
. . . . . . g.38776
agattatacatagaatctcgttcttcctagaatgttttcctgtctaacccatctactgca c.*1320
. . . . . . g.38836
taattccctgatttttctccacaggttatgcccctgatgaatggggactaaagctcagat c.*1380
. . . . . . g.38896
gtgtggtcatttgcaacccctgagttcacttttttaagacagcttattgatatatataat c.*1440
. . . . . . g.38956
gtacataccatacagtcacccacttaaaagtatacaattaaatagcttttagtatattca c.*1500
. . . . . . g.39016
gagttgtgcagccatcattcgaaaaaaaatttcagaacattttcatcactgcagaaagaa c.*1560
. . . . . . g.39076
actccatatcccttaggcgtcctttacccctcatcccatttgcctattctggacatttta c.*1620
. . g.39102
cataaatggaatcgtataatatgtga c.*1646
(downstream sequence)
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