(used for variant description)
(last modified June 4, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018026.3 in the PACS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033900.1, covering PACS1 transcript NM_018026.3.
(upstream sequence)
. g.5014
gcagctcgctggct c.-121
. . . . . . g.5074
gctcgcgctcgggcaggcgggctgaggaggctgccgcgcccccgccgccgccgccgcggg c.-61
. . . . . . g.5134
ggaagcctgggagccagatcggcgtcgcctcggcctccgtaacccccgcctagccgggcc c.-1
. . . . . . g.5194
ATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAG c.60
M A E R G G A G G G P G G A G G G S G Q p.20
. . . . . . g.5254
CGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAG c.120
R G S G V A Q S P Q Q P P P Q Q Q Q Q Q p.40
. . . . . . g.5314
CCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACC c.180
P P Q Q P T P P K L A Q A T S S S S S T p.60
. . . . . . g.5374
TCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTG c.240
S A A A A S S S S S S T S T S M A V A V p.80
. . . . . . g.5434
GCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAG c.300
A S G S A P P G G P G P G R T P A P V Q p.100
. . . . . | 02 . g.128137
ATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAG | GCTA c.360
M N L Y A T W E V D R S S S S C V P R | L p.120
. . . . . . g.128197
TTCAGCTTGACCCTGAAGAAACTCGTCATGCTAAAAGAAATGGACAAAGATCTTAACTCA c.420
F S L T L K K L V M L K E M D K D L N S p.140
. . | 03 . . . . g.145045
GTGGTCATCGCTGTGAAGCTGCAG | GGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTC c.480
V V I A V K L Q | G S K R I L R S N E I V p.160
. . . . . | 04 . g.145787
CTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAG | TACCCT c.540
L P A S G L V E T E L Q L T F S L Q | Y P p.180
. . . . . . g.145847
CATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTAC c.600
H F L K R D A N K L Q I M L Q R R K R Y p.200
. . . . . . g.145907
AAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAG c.660
K N R T I L G Y K T L A V G L I N M A E p.220
| 05 . . . . . . g.150826
| GTGATGCAGCATCCTAATGAAGGCGCACTGGTGCTTGGCCTACACAGCAACGTGAAGGAT c.720
| V M Q H P N E G A L V L G L H S N V K D p.240
. . . . . . g.150886
GTCTCTGTGCCTGTGGCAGAAATAAAGATCTACTCCCTGTCCAGCCAACCCATTGACCAT c.780
V S V P V A E I K I Y S L S S Q P I D H p.260
. . | 06 . . . . g.151202
GAAGGAATCAAATCCAAGCTTTCTG | ATCGTTCTCCTGATATTGACAATTATTCTGAGGAA c.840
E G I K S K L S D | R S P D I D N Y S E E p.280
. . . . . | 07. g.151345
GAGGAAGAGAGTTTCTCATCAGAACAGGAAGGCAGTGATGATCCATTGCATGGGCAG | GAC c.900
E E E S F S S E Q E G S D D P L H G Q | D p.300
. . . . . . g.151405
TTGTTCTACGAAGACGAAGATCTCCGGAAAGTGAAGAAGACCCGGAGGAAACTAACCTCA c.960
L F Y E D E D L R K V K K T R R K L T S p.320
. | 08 . . . . g.154435
ACCTCTGCCATCACAAGG | CAACCTAACATCAAACAGAAGTTTGTGGCCCTCCTGAAGCGG c.1020
T S A I T R | Q P N I K Q K F V A L L K R p.340
. | 09 . . . . g.155320
TTTAAAGTTTCAGATGAG | GTGGGCTTTGGGCTGGAGCATGTGTCCCGCGAGCAGATCCGG c.1080
F K V S D E | V G F G L E H V S R E Q I R p.360
. . . . . . g.155380
GAAGTGGAAGAGGACTTGGATGAATTGTATGACAGTCTGGAGATGTACAACCCCAGCGAC c.1140
E V E E D L D E L Y D S L E M Y N P S D p.380
. . . . . | 10 g.155802
AGTGGCCCTGAGATGGAGGAGACAGAAAGCATCCTCAGCACGCCAAAGCCCAAGCTCAA | G c.1200
S G P E M E E T E S I L S T P K P K L K | p.400
. . . . . . g.155862
CCTTTCTTTGAGGGGATGTCGCAGTCCAGCTCCCAGACGGAGATTGGCAGCCTCAACAGC c.1260
P F F E G M S Q S S S Q T E I G S L N S p.420
. . . | 11 . . . g.162178
AAAGGCAGCCTCGGAAAAGACACCACCAGCCCT | ATGGAATTGGCTGCTCTAGAAAAAATT c.1320
K G S L G K D T T S P | M E L A A L E K I p.440
. . . . . | 12 . g.165201
AAATCTACTTGGATTAAAAACCAAGATGACAGCTTGACTGAAACAGACACTCTG | GAAATC c.1380
K S T W I K N Q D D S L T E T D T L | E I p.460
. . . . . . g.165261
ACTGACCAGGACATGTTTGGAGATGCCAGCACGAGTCTGGTTGTGCCGGAGAAAGTCAAA c.1440
T D Q D M F G D A S T S L V V P E K V K p.480
. . . . . | 13 . g.165462
ACTCCCATGAAGTCCAGTAAAACGGATCTCCAGGGCTCTGCCTCCCCCAG | CAAAGTGGAG c.1500
T P M K S S K T D L Q G S A S P S | K V E p.500
. . . . . . g.165522
GGGGTGCACACACCCCGGCAGAAGAGGAGCACGCCCCTGAAGGAGCGGCAGCTCTCCAAG c.1560
G V H T P R Q K R S T P L K E R Q L S K p.520
. . . . . . g.165582
CCCCTAAGTGAGAGGACCAACAGTTCCGACAGCGAGCGCTCCCCAGATCTGGGCCACAGC c.1620
P L S E R T N S S D S E R S P D L G H S p.540
| 14 . . . . . . g.166873
ACGCAG | ATTCCAAGAAAGGTGGTGTATGACCAGCTCAATCAGATCCTGGTGTCAGATGCA c.1680
T Q | I P R K V V Y D Q L N Q I L V S D A p.560
. . . . . | 15 . g.167616
GCCCTCCCAGAAAATGTCATTCTGGTGAACACCACTGACTGGCAGGGCCAG | TATGTGGCT c.1740
A L P E N V I L V N T T D W Q G Q | Y V A p.580
. . . . . . g.167676
GAGCTGCTCCAGGACCAGCGGAAGCCTGTGGTGTGCACCTGCTCCACCGTGGAGGTCCAG c.1800
E L L Q D Q R K P V V C T C S T V E V Q p.600
. . . | 16 . . g.168454
GCCGTGCTGTCCGCCCTGCTCACCCGGATCCAGCGCTA | CTGCAACTGCAACTCTTCCATG c.1860
A V L S A L L T R I Q R Y | C N C N S S M p.620
. . . . . . g.168514
CCGAGGCCAGTGAAGGTGGCTGCTGTGGGAGGCCAGAGCTACCTGAGCTCCATCCTCAGG c.1920
P R P V K V A A V G G Q S Y L S S I L R p.640
. . . . . . g.168574
TTCTTTGTCAAGTCCCTGGCCAACAAGACCTCCGACTGGCTTGGCTACATGCGCTTCCTC c.1980
F F V K S L A N K T S D W L G Y M R F L p.660
. | 17 . . . . . g.168826
ATCATCCCCCTCG | GTTCTCACCCTGTGGCCAAATACTTGGGGTCAGTCGACAGTAAATAC c.2040
I I P L G | S H P V A K Y L G S V D S K Y p.680
. . . . . . g.168886
AGTAGTTCCTTCCTGGATTCTGGTTGGAGAGATCTGTTCAGTCGCTCGGAGCCACCAGTG c.2100
S S S F L D S G W R D L F S R S E P P V p.700
| 18 . . . . . . g.170004
TCAG | AGCAACTGGACGTGGCAGGGCGGGTGATGCAGTACGTCAACGGGGCAGCCACGACA c.2160
S E | Q L D V A G R V M Q Y V N G A A T T p.720
. . . . | 19. . g.170558
CACCAGCTTCCCGTGGCCGAAGCCATGCTGACTTGCCGGCATAAGTT | CCCTGATGAAGAC c.2220
H Q L P V A E A M L T C R H K F | P D E D p.740
. . . | 20 . . . g.173481
TCCTATCAGAAGTTTATTCCCTTCATTGGC | GTGGTGAAGGTGGGTCTGGTTGAAGACTCT c.2280
S Y Q K F I P F I G | V V K V G L V E D S p.760
. | 21 . . . . . g.173836
CCCTCCACAGCAG | GCGATGGGGACGATTCTCCTGTGGTCAGCCTTACTGTGCCCTCCACA c.2340
P S T A G | D G D D S P V V S L T V P S T p.780
. . . . . . g.173896
TCACCACCCTCCAGCTCGGGCCTGAGCCGAGACGCCACGGCCACCCCTCCCTCCTCCCCA c.2400
S P P S S S G L S R D A T A T P P S S P p.800
. . | 22 . . . g.176105
TCTATGAGCAGCGCCCTGGCCATCGTGGG | GAGCCCTAATAGCCCATATGGGGACGTGATT c.2460
S M S S A L A I V G | S P N S P Y G D V I p.820
. . . . . . g.176165
GGCCTCCAGGTGGACTACTGGCTGGGCCACCCCGGGGAGCGGAGGAGGGAAGGCGACAAG c.2520
G L Q V D Y W L G H P G E R R R E G D K p.840
. . . . . . g.176225
AGGGACGCCAGCTCGAAGAACACCCTCAAGAGTGTCTTCCGCTCAGTGCAGGTGTCCCGC c.2580
R D A S S K N T L K S V F R S V Q V S R p.860
. . . . . . g.176285
CTGCCCCATAGTGGGGAGGCCCAGCTTTCTGGCACCATGGCCATGACTGTGGTCACCAAA c.2640
L P H S G E A Q L S G T M A M T V V T K p.880
. | 23 . . . . . g.177603
GAAAAGAACAAGAAAG | TTCCCACCATCTTCCTGAGCAAGAAACCCCGAGAAAAGGAGGTG c.2700
E K N K K V | P T I F L S K K P R E K E V p.900
. . . . . . g.177663
GATTCTAAGAGCCAGGTCATTGAAGGCATCAGCCGCCTCATCTGCTCAGCCAAGCAGCAG c.2760
D S K S Q V I E G I S R L I C S A K Q Q p.920
. | 24 . . . . . g.177856
CAGACTATGCTGAGAG | TGTCCATCGATGGGGTCGAGTGGAGTGACATCAAGTTCTTCCAG c.2820
Q T M L R V | S I D G V E W S D I K F F Q p.940
. . . . . . g.177916
CTGGCAGCCCAGTGGCCCACCCATGTCAAGCACTTTCCAGTGGGACTCTTCAGTGGCAGC c.2880
L A A Q W P T H V K H F P V G L F S G S p.960
. g.177928
AAGGCCACCTGA c.2892
K A T X p.963
. . . . . . g.177988
ggccctgtctcccagccactttccctcctggcactgccaccagcctcaccgcctgcgggc c.*60
. . . . . . g.178048
agggggaggccagcaggcccgggcccagcaccccttccctggcaccagggtctgcctctc c.*120
. . . . . . g.178108
actcgcccaggtcccgaaggacactgccacagggacgccttccctcccctcccctccagc c.*180
. . . . . . g.178168
ccacccctgcacagcccctcctccttcccgcttttccccttctccctcctgctccaggcc c.*240
. . . . . . g.178228
caaggcgtgttggttttgccttctggtgcccatagtcccctggactgagtcccccaggcc c.*300
. . . . . . g.178288
ttccttcacccgacttccaaactcttccttgtggtatcagtttccttctcggaaatgaga c.*360
. . . . . . g.178348
aagctggaatcctggtccccagcaggagagcctagtcctcccccagcccctccagccacc c.*420
. . . . . . g.178408
agggtgtcctctaggatgcagctgccagatccactcactctgctgcctccagcaggaccc c.*480
. . . . . . g.178468
aaggccactttcaactcttatggggttctccacctgccccagagcttctcaagggagggt c.*540
. . . . . . g.178528
aagggggcaccctgagcccacaggacccctacttcacagctcacaggggcaggaggcagc c.*600
. . . . . . g.178588
tcccctgcctccaggaccctgttgctatggtgacacagcgtttctaggacagaggggcct c.*660
. . . . . . g.178648
cccagtctccccccaccacccgtgcacgacttcctcaccacccccaggttccctgcagat c.*720
. . . . . . g.178708
gtcgtgtgtgtcctgagtgtttctttggttctttgcacgccaagtctcttggttgtacca c.*780
. . . . . . g.178768
tgtgacacaccctgtgcactggtcgctgtcttcgtggcttccacccttgttaatgatgct c.*840
. . . . . . g.178828
cctgcctctgcctcccagcccctcacccagcacagctctgcctggacttggagagatggg c.*900
. . . . . . g.178888
aggcagacccccaccaccatacatgctgtctgtggcccctcagacattctgtttcatctc c.*960
. . . . . . g.178948
ccattcatctccctcctcccaccgtgtcagtttttctgcctttccctgctctgttcttcc c.*1020
. . . . . . g.179008
ccctccttaggccccagcctgggcccagacccatcctcccagccaggtttccctccagca c.*1080
. . . . . . g.179068
ggctccttccctccctgtcacctccctctcaccaacccggggtctgagcccctcattcct c.*1140
. . . . . . g.179128
gaccgtccgtgttctcaggagtggttgaggacacagggccccagcccagccctctgcacc c.*1200
. . . . . . g.179188
ccccagcccggccatctgcgccccacagcccctttggagcttttctcttgtcctctcact c.*1260
. . . . . . g.179248
ccttcccagaagtttttgcacagaacttcattttgaaagtgtttttctcattctccatac c.*1320
. . . . . . g.179308
ctcccccaagctctcctccagcccttcccagggctcagccctgctgtcctgagcgtctcc c.*1380
. . . . . . g.179368
tgggccagagagaggagatgggggtgggagggactgagttgatgttgggtttttcattca c.*1440
. . g.179395
ataaattggtgatttcttaccgactgc c.*1467
(downstream sequence)
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