(used for variant description)
(last modified July 1, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003722.4 in the TP63 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007550.1, covering TP63 transcript NM_003722.4.
(upstream sequence)
. . g.5029
cccggctttatatctatatatacacaggt c.-61
. . . . . . g.5089
atatgtgtatattttatataattgttctccgttcgttgatatcaaagacagttgaaggaa c.-1
. . . . . . g.5149
ATGAATTTTGAAACTTCACGGTGTGCCACCCTACAGTACTGCCCTGACCCTTACATCCAG c.60
M N F E T S R C A T L Q Y C P D P Y I Q p.20
| 02 . . . . . . g.111371
CG | TTTCGTAGAAACCCCAGCTCATTTCTCTTGGAAAGAAAGTTATTACCGATCCACCATG c.120
R | F V E T P A H F S W K E S Y Y R S T M p.40
. . . . . . g.111431
TCCCAGAGCACACAGACAAATGAATTCCTCAGTCCAGAGGTTTTCCAGCATATCTGGGAT c.180
S Q S T Q T N E F L S P E V F Q H I W D p.60
. | 03 . . . . . g.112264
TTTCTGGAACA | GCCTATATGTTCAGTTCAGCCCATTGACTTGAACTTTGTGGATGAACCA c.240
F L E Q | P I C S V Q P I D L N F V D E P p.80
. . . . . . g.112324
TCAGAAGATGGTGCGACAAACAAGATTGAGATTAGCATGGACTGTATCCGCATGCAGGAC c.300
S E D G A T N K I E I S M D C I R M Q D p.100
. . | 04 . . . . g.181881
TCGGACCTGAGTGACCCCATGTGG | CCACAGTACACGAACCTGGGGCTCCTGAACAGCATG c.360
S D L S D P M W | P Q Y T N L G L L N S M p.120
. . . . . . g.181941
GACCAGCAGATTCAGAACGGCTCCTCGTCCACCAGTCCCTATAACACAGACCACGCGCAG c.420
D Q Q I Q N G S S S T S P Y N T D H A Q p.140
. . . . . . g.182001
AACAGCGTCACGGCGCCCTCGCCCTACGCACAGCCCAGCTCCACCTTCGATGCTCTCTCT c.480
N S V T A P S P Y A Q P S S T F D A L S p.160
. . . . . . g.182061
CCATCACCCGCCATCCCCTCCAACACCGACTACCCAGGCCCGCACAGTTTCGACGTGTCC c.540
P S P A I P S N T D Y P G P H S F D V S p.180
. . . | 05 . . g.237826
TTCCAGCAGTCGAGCACCGCCAAGTCGGCCACCTGGACG | TATTCCACTGAACTGAAGAAA c.600
F Q Q S S T A K S A T W T | Y S T E L K K p.200
. . . . . . g.237886
CTCTACTGCCAAATTGCAAAGACATGCCCCATCCAGATCAAGGTGATGACCCCACCTCCT c.660
L Y C Q I A K T C P I Q I K V M T P P P p.220
. . . . . . g.237946
CAGGGAGCTGTTATCCGCGCCATGCCTGTCTACAAAAAAGCTGAGCACGTCACGGAGGTG c.720
Q G A V I R A M P V Y K K A E H V T E V p.240
. . . . | 06 . . g.240269
GTGAAGCGGTGCCCCAACCATGAGCTGAGCCGTGAATTCAACGAGG | GACAGATTGCCCCT c.780
V K R C P N H E L S R E F N E G | Q I A P p.260
. . . . . . g.240329
CCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATC c.840
P S H L I R V E G N S H A Q Y V E D P I p.280
. . . . | 07 . . g.241424
ACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAG | GTTGGCACTGAATTCACG c.900
T G R Q S V L V P Y E P P Q | V G T E F T p.300
. . . . . . g.241484
ACAGTCTTGTACAATTTCATGTGTAACAGCAGTTGTGTTGGAGGGATGAACCGCCGTCCA c.960
T V L Y N F M C N S S C V G G M N R R P p.320
. . . | 08 . . . g.242181
ATTTTAATCATTGTTACTCTGGAAACCAGAGA | TGGGCAAGTCCTGGGCCGACGCTGCTTT c.1020
I L I I V T L E T R D | G Q V L G R R C F p.340
. . . . . . g.242241
GAGGCCCGGATCTGTGCTTGCCCAGGAAGAGACAGGAAGGCGGATGAAGATAGCATCAGA c.1080
E A R I C A C P G R D R K A D E D S I R p.360
. . . . | 09 . g.242908
AAGCAGCAAGTTTCGGACAGTACAAAGAACGGTGATGGTACGAAGCGCC | CGTTTCGTCAG c.1140
K Q Q V S D S T K N G D G T K R P | F R Q p.380
. . . . . . g.242968
AACACACATGGTATCCAGATGACATCCATCAAGAAACGAAGATCCCCAGATGATGAACTG c.1200
N T H G I Q M T S I K K R R S P D D E L p.400
. | 10 . . . . . g.246480
TTATACTTACCA | GTGAGGGGCCGTGAGACTTATGAAATGCTGTTGAAGATCAAAGAGTCC c.1260
L Y L P | V R G R E T Y E M L L K I K E S p.420
. . . . . . g.246540
CTGGAACTCATGCAGTACCTTCCTCAGCACACAATTGAAACGTACAGGCAACAGCAACAG c.1320
L E L M Q Y L P Q H T I E T Y R Q Q Q Q p.440
. . | 11 . . . g.259998
CAGCAGCACCAGCACTTACTTCAGAAACA | GACCTCAATACAGTCTCCATCTTCATATGGT c.1380
Q Q H Q H L L Q K Q | T S I Q S P S S Y G p.460
. . . . . . g.260058
AACAGCTCCCCACCTCTGAACAAAATGAACAGCATGAACAAGCTGCCTTCTGTGAGCCAG c.1440
N S S P P L N K M N S M N K L P S V S Q p.480
. . . . . . g.260118
CTTATCAACCCTCAGCAGCGCAACGCCCTCACTCCTACAACCATTCCTGATGGCATGGGA c.1500
L I N P Q Q R N A L T P T T I P D G M G p.500
| 12. . . . . . g.262966
GCCAACA | TTCCCATGATGGGCACCCACATGCCAATGGCTGGAGACATGAATGGACTCAGC c.1560
A N I | P M M G T H M P M A G D M N G L S p.520
. . . . . . g.263026
CCCACCCAGGCACTCCCTCCCCCACTCTCCATGCCATCCACCTCCCACTGCACACCCCCA c.1620
P T Q A L P P P L S M P S T S H C T P P p.540
. . . | 13 . . . g.264390
CCTCCGTATCCCACAGATTGCAGCATTGTCAG | TTTCTTAGCGAGGTTGGGCTGTTCATCA c.1680
P P Y P T D C S I V S | F L A R L G C S S p.560
. . . . . . g.264450
TGTCTGGACTATTTCACGACCCAGGGGCTGACCACCATCTATCAGATTGAGCATTACTCC c.1740
C L D Y F T T Q G L T T I Y Q I E H Y S p.580
| 14 . . . . . . g.267833
ATGGAT | GATCTGGCAAGTCTGAAAATCCCTGAGCAATTTCGACATGCGATCTGGAAGGGC c.1800
M D | D L A S L K I P E Q F R H A I W K G p.600
. . . . . . g.267893
ATCCTGGACCACCGGCAGCTCCACGAATTCTCCTCCCCTTCTCATCTCCTGCGGACCCCA c.1860
I L D H R Q L H E F S S P S H L L R T P p.620
. . . . . . g.267953
AGCAGTGCCTCTACAGTCAGTGTGGGCTCCAGTGAGACCCGGGGTGAGCGTGTTATTGAT c.1920
S S A S T V S V G S S E T R G E R V I D p.640
. . . . . . g.268013
GCTGTGCGATTCACCCTCCGCCAGACCATCTCTTTCCCACCCCGAGATGAGTGGAATGAC c.1980
A V R F T L R Q T I S F P P R D E W N D p.660
. . . . . . g.268073
TTCAACTTTGACATGGATGCTCGCCGCAATAAGCAACAGCGCATCAAAGAGGAGGGGGAG c.2040
F N F D M D A R R N K Q Q R I K E E G E p.680
g.268076
TGA c.2043
X p.680
. . . . . . g.268136
gcctcaccatgtgagctcttcctatccctctcctaactgccagccccctaaaagcactcc c.*60
. . . . . . g.268196
tgcttaatcttcaaagccttctccctagctcctccccttcctcttgtctgatttcttagg c.*120
. . . . . . g.268256
ggaaggagaagtaagaggctacctcttacctaacatctgacctggcatctaattctgatt c.*180
. . . . . . g.268316
ctggctttaagccttcaaaactatagcttgcagaactgtagctgccatggctaggtagaa c.*240
. . . . . . g.268376
gtgagcaaaaaagagttgggtgtctccttaagctgcagagatttctcattgacttttata c.*300
. . . . . . g.268436
aagcatgttcacccttatagtctaagactatatatataaatgtataaatatacagtatag c.*360
. . . . . . g.268496
atttttgggtggggggcattgagtattgtttaaaatgtaatttaaatgaaagaaaattga c.*420
. . . . . . g.268556
gttgcacttattgaccattttttaatttacttgttttggatggcttgtctatactccttc c.*480
. . . . . . g.268616
ccttaaggggtatcatgtatggtgataggtatctagagcttaatgctacatgtgagtgac c.*540
. . . . . . g.268676
gatgatgtacagattctttcagttctttggattctaaatacatgccacatcaaacctttg c.*600
. . . . . . g.268736
agtagatccatttccattgcttattatgtaggtaagactgtagatatgtattcttttctc c.*660
. . . . . . g.268796
agtgttggtatattttatattactgacatttcttctagtgatgatggttcacgttggggt c.*720
. . . . . . g.268856
gatttaatccagttataagaagaagttcatgtccaaacgtcctctttagtttttggttgg c.*780
. . . . . . g.268916
gaatgaggaaaattcttaaaaggcccatagcagccagttcaaaaacacccgacgtcatgt c.*840
. . . . . . g.268976
atttgagcatatcagtaacccccttaaatttaataccagataccttatcttacaatattg c.*900
. . . . . . g.269036
attgggaaaacatttgctgccattacagaggtattaaaactaaatttcactactagattg c.*960
. . . . . . g.269096
actaactcaaatacacatttgctactgttgtaagaattctgattgatttgattgggatga c.*1020
. . . . . . g.269156
atgccatctatctagttctaacagtgaagttttactgtctattaatattcagggtaaata c.*1080
. . . . . . g.269216
ggaatcattcagaaatgttgagtctgtactaaacagtaagatatctcaatgaaccataaa c.*1140
. . . . . . g.269276
ttcaactttgtaaaaatcttttgaagcatagataatattgtttggtaaatgtttcttttg c.*1200
. . . . . . g.269336
tttggtaaatgtttcttttaaagaccctcctattctataaaactctgcatgtagaggctt c.*1260
. . . . . . g.269396
gtttacctttctctctctaaggtttacaataggagtggtgatttgaaaaatataaaatta c.*1320
. . . . . . g.269456
tgagattggttttcctgtggcataaattgcatcactgtatcattttcttttttaaccggt c.*1380
. . . . . . g.269516
aagagtttcagtttgttggaaagtaactgtgagaacccagtttcccgtccatctccctta c.*1440
. . . . . . g.269576
gggactacccatagacatgaaaggtccccacagagcaagagataagtctttcatggctgc c.*1500
. . . . . . g.269636
tgttgcttaaaccacttaaacgaagagttcccttgaaactttgggaaaacatgttaatga c.*1560
. . . . . . g.269696
caatattccagatctttcagaaatataacacatttttttgcatgcatgcaaatgagctct c.*1620
. . . . . . g.269756
gaaatcttcccatgcattctggtcaagggctgtcattgcacataagcttccattttaatt c.*1680
. . . . . . g.269816
ttaaagtgcaaaagggccagcgtggctctaaaaggtaatgtgtggattgcctctgaaaag c.*1740
. . . . . . g.269876
tgtgtatatattttgtgtgaaattgcatactttgtattttgattattttttttttcttct c.*1800
. . . . . . g.269936
tgggatagtgggatttccagaaccacacttgaaacctttttttatcgtttttgtattttc c.*1860
. . . . . . g.269996
atgaaaataccatttagtaagaataccacatcaaataagaaataatgctacaattttaag c.*1920
. . . . . . g.270056
aggggagggaagggaaagtttttttttattatttttttaaaattttgtatgttaaagaga c.*1980
. . . . . . g.270116
atgagtccttgatttcaaagttttgttgtacttaaatggtaataagcactgtaaacttct c.*2040
. . . . . . g.270176
gcaacaagcatgcagctttgcaaacccattaaggggaagaatgaaagctgttccttggtc c.*2100
. . . . . . g.270236
ctagtaagaagacaaactgcttcccttactttgctgagggtttgaataaacctaggactt c.*2160
. . . . . . g.270296
ccgagctatgtcagtactattcaggtaacactagggccttggaaattcctgtactgtgtc c.*2220
. . . . . . g.270356
tcatggatttggcactagccaaagcgaggcacccttactggcttacctcctcatggcagc c.*2280
. . . . . . g.270416
ctactctccttgagtgtatgagtagccagggtaaggggtaaaaggatagtaagcatagaa c.*2340
. . . . . . g.270476
accactagaaagtgggcttaatggagttcttgtggcctcagctcaatgcagttagctgaa c.*2400
. . . . . . g.270536
gaattgaaaagtttttgtttggagacgtttataaacagaaatggaaagcagagttttcat c.*2460
. . . . . . g.270596
taaatccttttaccttttttttttcttggtaatcccctaaaataacagtatgtgggatat c.*2520
. . . . . . g.270656
tgaatgttaaagggatatttttttctattatttttataattgtacaaaattaagcaaatg c.*2580
. . . . . . g.270716
ttaaaagttttatatgctttattaatgttttcaaaaggtattatacatgtgatacatttt c.*2640
. . . . . . g.270776
ttaagcttcagttgcttgtcttctggtactttctgttatgggcttttggggagccagaag c.*2700
. . . . . . g.270836
ccaatctacaatctctttttgtttgccaggacatgcaataaaatttaaaaaataaataaa c.*2760
. g.270853
aactaattaagaaattg c.*2777
(downstream sequence)
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