(used for variant description)
(last modified June 27, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_015061.3 in the KDM4C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering KDM4C transcript NM_015061.3.
(upstream sequence)
. . . . g.41818
gccataggtgcgcgtcggcgcccaggaggacgtgtggcgc c.-541
. . . . . . g.41878
gtggactacatcaggtccagccctgcgggaccccagccagcgcttccgggcaaggttctg c.-481
. . . . . . g.41938
tgcacctgttttctccttctacgcgagtatctttcccctccggaaagaatgggatatgcc c.-421
. . . . . . g.41998
tgtgtccaaaggacaagaagatgcgcgccagcaagcctaagttaaccacagcgcggaagt c.-361
. . . . . . g.42058
tgagcccaaagcaagagcgtgccgggcacctttaagctgtttgtaagcccacgtgactca c.-301
. . . . . . g.42118
ccaagtgcgggccccagcggtcacgtgacggcgcgcgcgccctcgcgcagggagagccgg c.-241
. . . . . . g.42178
cggtgcgcgcgccttcgccgctgcctcccacccaccccctcgacgggagggtgaggcgcg c.-181
. . . . . . g.42238
gcgcagtgatcgggcggccggggtcctgtgcgcgtgcgcagcgaacagctgtcacctagt c.-121
. . . . . . g.42298
gcggaacaagtctcccaaatttcccaaatctccctgggccggaggccactgtcttctctt c.-61
. . . . . | 02 . g.77126
cctcctccaccgagtcgtgctctcgccccaacccgcgcgccag | acactgccctaaccatc c.-1
. . . . . . g.77186
ATGGAGGTGGCCGAGGTGGAAAGTCCTCTGAACCCCAGCTGTAAGATAATGACCTTCAGA c.60
M E V A E V E S P L N P S C K I M T F R p.20
. . . . . . g.77246
CCCTCCATGGAGGAGTTCCGGGAGTTCAACAAATACCTTGCATACATGGAGTCTAAAGGA c.120
P S M E E F R E F N K Y L A Y M E S K G p.40
. . | 03 . . . . g.89772
GCCCATCGTGCGGGTCTTGCAAAG | GTGATTCCTCCTAAGGAGTGGAAGCCAAGACAGTGC c.180
A H R A G L A K | V I P P K E W K P R Q C p.60
. . . . . . g.89832
TATGATGACATTGATAATTTGCTCATTCCAGCACCAATTCAGCAGATGGTCACAGGGCAG c.240
Y D D I D N L L I P A P I Q Q M V T G Q p.80
. . . . . . g.89892
TCAGGACTGTTCACTCAGTACAACATCCAGAAAAAAGCGATGACTGTGAAGGAGTTCAGG c.300
S G L F T Q Y N I Q K K A M T V K E F R p.100
. . | 04 . . . . g.98808
CAGCTGGCCAACAGTGGCAA | ATATTGTACTCCAAGATACTTGGATTACGAAGATTTGGAG c.360
Q L A N S G K | Y C T P R Y L D Y E D L E p.120
. . . . . . g.98868
CGCAAGTACTGGAAGAACTTAACTTTTGTGGCACCTATCTATGGTGCAGATATTAATGGG c.420
R K Y W K N L T F V A P I Y G A D I N G p.140
. | 05 . . . . . g.133689
AGCATATATGATGAG | GGTGTGGATGAATGGAACATAGCTCGCCTCAATACAGTCTTGGAT c.480
S I Y D E | G V D E W N I A R L N T V L D p.160
. . . . . . g.133749
GTGGTTGAAGAAGAGTGTGGCATTTCTATTGAGGGTGTAAATACCCCATATCTCTATTTT c.540
V V E E E C G I S I E G V N T P Y L Y F p.180
. . . . . . g.133809
GGCATGTGGAAGACCACGTTTGCATGGCACACCGAAGACATGGACCTCTATAGCATTAAT c.600
G M W K T T F A W H T E D M D L Y S I N p.200
. . | 06 . . . g.164180
TATCTCCACTTTGGAGAGCCCAAGTCTTG | GTATGCTATACCTCCGGAGCATGGAAAACGA c.660
Y L H F G E P K S W | Y A I P P E H G K R p.220
. | 07 . . . . g.172138
CTTGAAAGACTAGCTCAAG | GTTTTTTCCCAAGCAGCTCCCAAGGGTGTGATGCATTTCTT c.720
L E R L A Q G | F F P S S S Q G C D A F L p.240
. . . . . . g.172198
CGCCACAAGATGACATTGATTTCTCCATCAGTATTGAAGAAATATGGTATTCCCTTTGAC c.780
R H K M T L I S P S V L K K Y G I P F D p.260
| 08 . . . . . . g.177289
AAG | ATAACCCAGGAGGCTGGAGAATTCATGATCACTTTCCCATATGGCTACCATGCTGGT c.840
K | I T Q E A G E F M I T F P Y G Y H A G p.280
. . . . . . g.177349
TTTAATCATGGTTTCAACTGTGCAGAATCTACAAATTTTGCTACTGTCAGATGGATTGAC c.900
F N H G F N C A E S T N F A T V R W I D p.300
. . | 09 . . . . g.265101
TATGGAAAAGTTGCCAAATTG | TGCACTTGCAGGAAAGACATGGTGAAGATTTCAATGGAT c.960
Y G K V A K L | C T C R K D M V K I S M D p.320
. . . . . . g.265161
ATCTTTGTGAGGAAATTTCAGCCAGACAGATATCAGCTTTGGAAACAAGGAAAGGATATA c.1020
I F V R K F Q P D R Y Q L W K Q G K D I p.340
. . . . . . g.265221
TACACCATTGATCACACGAAGCCTACTCCAGCATCCACCCCTGAAGTAAAAGCATGGCTG c.1080
Y T I D H T K P T P A S T P E V K A W L p.360
. . . | 10 . . . g.268328
CAGAGGAGGAGGAAAGTAAGAAAAGCATCCCGAAG | CTTCCAGTGTGCTAGGTCTACCTCT c.1140
Q R R R K V R K A S R S | F Q C A R S T S p.380
. . . . . . g.268388
AAAAGGCCTAAGGCTGATGAGGAAGAGGAAGTGTCAGATGAAGTCGATGGGGCAGAGGTC c.1200
K R P K A D E E E E V S D E V D G A E V p.400
. . . . . . g.268448
CCTAACCCCGACTCAGTCACAGATGACCTCAAGGTCAGTGAAAAGTCAGAAGCAGCAGTG c.1260
P N P D S V T D D L K V S E K S E A A V p.420
. . . . . . g.268508
AAGCTGAGGAACACAGAAGCATCTTCAGAAGAAGAGTCATCTGCTAGCAGGATGCAGGTG c.1320
K L R N T E A S S E E E S S A S R M Q V p.440
. . . | 11 . . . g.270507
GAGCAGAATTTATCAGATCATATCAAACTCTCAG | GAAACAGCTGCTTAAGTACATCTGTA c.1380
E Q N L S D H I K L S G | N S C L S T S V p.460
. . . . . . g.270567
ACAGAAGACATAAAAACTGAGGATGACAAAGCTTATGCATATAGAAGTGTACCTTCTATA c.1440
T E D I K T E D D K A Y A Y R S V P S I p.480
. . . . . . g.270627
TCCAGTGAGGCTGATGATTCCATTCCATTGTCTAGTGGCTATGAGAAGCCCGAGAAATCA c.1500
S S E A D D S I P L S S G Y E K P E K S p.500
. . . . . . g.270687
GACCCATCCGAGCTTTCATGGCCAAAGTCACCTGAGTCATGCTCATCAGTGGCAGAGAGT c.1560
D P S E L S W P K S P E S C S S V A E S p.520
. . . . . . g.270747
AATGGTGTGTTAACAGAGGGAGAAGAGAGTGATGTGGAGAGCCATGGGAATGGCCTTGAA c.1620
N G V L T E G E E S D V E S H G N G L E p.540
. . . . . | 12. g.274556
CCTGGGGAAATCCCAGCGGTCCCCAGTGGAGAGAGAAATAGCTTCAAAGTCCCCAGT | ATA c.1680
P G E I P A V P S G E R N S F K V P S | I p.560
. . . . . . g.274616
GCAGAGGGAGAGAACAAAACCTCTAAGAGTTGGCGCCATCCACTTAGCAGGCCTCCAGCA c.1740
A E G E N K T S K S W R H P L S R P P A p.580
. . . . | 13 . . g.295849
AGATCTCCGATGACTCTTGTGAAGCAGCAGGCGCCAAGTGATGAAG | AATTGCCTGAGGTT c.1800
R S P M T L V K Q Q A P S D E E | L P E V p.600
. . . . . . g.295909
CTGTCCATTGAGGAGGAAGTGGAAGAAACAGAGTCTTGGGCGAAACCTCTCATCCACCTT c.1860
L S I E E E V E E T E S W A K P L I H L p.620
. . . . . . g.295969
TGGCAGACGAAGTCCCCTAACTTCGCAGCTGAGCAAGAGTATAATGCAACAGTGGCCAGG c.1920
W Q T K S P N F A A E Q E Y N A T V A R p.640
. . . . | 14 . g.297937
ATGAAGCCACACTGTGCCATCTGCACTCTGCTCATGCCGTACCACAAG | CCAGATAGCAGC c.1980
M K P H C A I C T L L M P Y H K | P D S S p.660
. . . . . . g.297997
AATGAAGAAAATGATGCTAGATGGGAGACAAAATTAGATGAAGTCGTTACATCGGAGGGA c.2040
N E E N D A R W E T K L D E V V T S E G p.680
. . . . . . g.298057
AAGACTAAGCCCCTCATACCAGAGATGTGTTTTATTTATAGTGAAGAAAATATAGAATAT c.2100
K T K P L I P E M C F I Y S E E N I E Y p.700
. . . . . . g.298117
TCTCCACCCAATGCCTTCCTTGAAGAGGATGGAACAAGTCTCCTTATTTCCTGTGCAAAG c.2160
S P P N A F L E E D G T S L L I S C A K p.720
. . | 15 . . . . g.300028
TGCTGCGTACGGGTTCATGCAA | GTTGTTATGGTATTCCTTCTCATGAGATCTGTGATGGA c.2220
C C V R V H A S | C Y G I P S H E I C D G p.740
. . . | 16 . . g.331020
TGGCTGTGTGCCCGGTGCAAAAGAAATGCGTGGACAGCA | GAATGCTGTCTCTGCAATTTG c.2280
W L C A R C K R N A W T A | E C C L C N L p.760
. . . | 17 . . . g.333254
AGAGGAGGTGCTCTTAAGCAAACGAAGAACAATAA | GTGGGCCCATGTCATGTGCGCCGTT c.2340
R G G A L K Q T K N N K | W A H V M C A V p.780
. . . . . . g.333314
GCGGTCCCAGAAGTTCGATTCACTAATGTCCCAGAAAGGACACAAATAGATGTAGGCAGA c.2400
A V P E V R F T N V P E R T Q I D V G R p.800
. . | 18 . . . . g.387858
ATACCTTTACAGAGGTTAAAATTG | AAATGCATCTTCTGCAGACACCGGGTTAAGAGGGTC c.2460
I P L Q R L K L | K C I F C R H R V K R V p.820
. . . . . . g.387918
TCTGGAGCCTGCATCCAGTGTTCCTACGGTCGCTGCCCGGCCTCCTTCCATGTCACTTGT c.2520
S G A C I Q C S Y G R C P A S F H V T C p.840
. . . . . . g.387978
GCCCATGCTGCTGGGGTACTGATGGAGCCTGATGACTGGCCTTATGTGGTGAACATTACA c.2580
A H A A G V L M E P D D W P Y V V N I T p.860
. . . | 19 . . . g.412233
TGCTTTCGACATAAGGTCAACCCCAACGTG | AAGTCCAAGGCTTGCGAGAAGGTCATTTCC c.2640
C F R H K V N P N V | K S K A C E K V I S p.880
. . . . . . g.412293
GTGGGTCAAACGGTCATCACGAAGCATCGGAACACCCGGTATTACAGTTGCAGAGTGATG c.2700
V G Q T V I T K H R N T R Y Y S C R V M p.900
. . . . . . g.412353
GCTGTGACATCGCAGACCTTCTATGAGGTCATGTTTGATGATGGCTCCTTTAGCAGAGAC c.2760
A V T S Q T F Y E V M F D D G S F S R D p.920
. . | 20 . . . . g.449414
ACATTTCCTGAGGATATCGTG | AGCCGAGACTGTCTGAAGCTGGGCCCACCTGCTGAGGGA c.2820
T F P E D I V | S R D C L K L G P P A E G p.940
. . . . . . g.449474
GAAGTCGTCCAAGTCAAGTGGCCCGATGGCAAACTCTATGGAGCAAAATATTTTGGATCA c.2880
E V V Q V K W P D G K L Y G A K Y F G S p.960
. . | 21 . . . . g.453974
AATATTGCCCACATGTACCAG | GTTGAGTTTGAAGATGGATCCCAGATAGCAATGAAGAGA c.2940
N I A H M Y Q | V E F E D G S Q I A M K R p.980
. . . . . | 22 . g.458696
GAGGACATCTACACTTTAGATGAAGAGTTACCCAAGAGAGTGAAAGCTCGATTT | TCCACA c.3000
E D I Y T L D E E L P K R V K A R F | S T p.1000
. . . . . . g.458756
GCCTCTGACATGCGATTTGAAGACACGTTTTATGGAGCAGACATTATCCAAGGGGAGAGA c.3060
A S D M R F E D T F Y G A D I I Q G E R p.1020
. . . . . . g.458816
AAGAGACAAAGAGTGCTGAGCTCCAGGTTTAAGAATGAATATGTGGCCGACCCTGTATAC c.3120
K R Q R V L S S R F K N E Y V A D P V Y p.1040
. . . . . g.458867
CGCACTTTTTTGAAGAGCTCTTTCCAGAAGAAGTGCCAGAAGAGACAGTAG c.3171
R T F L K S S F Q K K C Q K R Q X p.1056
. . . . . . g.458927
tctgcatacatcgctgcaggccacagagcagcttgggttggaagagagaagatgaaggga c.*60
. . . . . . g.458987
catccttggggctgtgccgtgagttttgctggcataggtgacagggtgtgtctctgacag c.*120
. . . . . . g.459047
tggtaaatcgggtttccagagtttggtcaccaaaaatacaaaatacacccaatgaattgg c.*180
. . . . . . g.459107
acgcagcaatctgaaatcatctctagtcttgctttcacttgtgagcagttgtcttctatg c.*240
. . . . . . g.459167
atcccaaagaagttttctaagtgaaaggaaatactagtgaatcacccacaaggaaaagcc c.*300
. . . . . . g.459227
actgccacagaggaggcgggtccccttgtgcggcttagggccctgtcaggaaacacacgg c.*360
. . . . . . g.459287
ggacctctctctctagctccagcaggtggcacctcggtacccagcgggtagggcgataat c.*420
. . . . . . g.459347
ttatatattttccacagtcagggaaggactctcacttatttgtttcaaattgcagttttt c.*480
. . . . . . g.459407
ataaaacatttttaaaacacaaatggcatgtatgctaatgagatttacccgtgtgctatc c.*540
. . . . . . g.459467
tgtatttcccttgtacagaacttttacatttttgaatattcctattacttttgattgtgt c.*600
. . . . . . g.459527
ctgatgggaactgagttgttggcctttgtgaaatgaaatttttggctcttgagaaagaat c.*660
. . . . . . g.459587
tcttatgaattgttatgcgaattttatatatttaaagagggagatctggggctgttattt c.*720
. . . . . . g.459647
ttaaacactttttttcataatacatattccgagtagatatttataaaatatatgtttctt c.*780
. . . . . . g.459707
tcattatgtgtttgtaaaattagagtttaaataaatatgctttgatgcatagttttgaac c.*840
. . . . . . g.459767
taatgtaacatgatttttcttttttaaaacagcctgaaaatgtactagtgtttaaaaata c.*900
. g.459786
aagatttccattttctcca c.*919
(downstream sequence)
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