(used for variant description)
(last modified June 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_130797.2 in the DPP6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033878.1, covering DPP6 transcript NM_130797.2.
(upstream sequence)
g.170367
gctgctgct c.-121
. . . . . . g.170427
gctgctgcctccccaccgcctttttttttttttaatctggagcggggtggggagtgggaa c.-61
. . . . . . g.170487
ccggagagaaagcaaaatattaaaaagccccaaagacagccagcaggagcgcggtgcccg c.-1
. . . . . . g.170547
ATGGCTTCGCTGTACCAGAGGTTCACTGGCAAGATCAACACCTCGAGGTCCTTCCCCGCG c.60
M A S L Y Q R F T G K I N T S R S F P A p.20
. . . . . . g.170607
CCCCCGGAGGCGAGTCACCTCCTGGGCGGCCAGGGGCCCGAGGAGGACGGCGGCGCAGGA c.120
P P E A S H L L G G Q G P E E D G G A G p.40
. . . . . . g.170667
GCCAAGCCCCTCGGCCCGCGGGCGCAGGCGGCGGCGCCCCGGGAGCGCGGCGGCGGCGGC c.180
A K P L G P R A Q A A A P R E R G G G G p.60
. . . . . . g.170727
GGCGGCGCGGGTGGCCGGCCCCGGTTCCAGTACCAGGCGCGGAGCGATGGTGACGAGGAG c.240
G G A G G R P R F Q Y Q A R S D G D E E p.80
| 02 . . . . . . g.563937
GAC | GAGCTGGTGGGGAGTAACCCTCCGCAGAGGAATTGGAAAGGAATAGCAATTGCACTG c.300
D | E L V G S N P P Q R N W K G I A I A L p.100
. . . . . | 03 g.592607
CTTGTCATTCTGGTCATCTGCTCCTTGATCGTCACCTCGGTCATACTTCTGACACCAG | CG c.360
L V I L V I C S L I V T S V I L L T P A | p.120
. . . . . . g.592667
GAAGATAATAGTCTGTCTCAAAAGAAGAAGGTCACTGTAGAAGATCTCTTCAGTGAAGAC c.420
E D N S L S Q K K K V T V E D L F S E D p.140
. . . | 04. . . g.658221
TTCAAAATTCATGACCCCGAGGCTAAGTGGATAAGTG | ATACAGAATTCATCTACAGAGAA c.480
F K I H D P E A K W I S D | T E F I Y R E p.160
. . . . . . g.658281
CAGAAAGGAACAGTGAGACTGTGGAATGTTGAAACAAATACTTCTACTGTCTTAATAGAA c.540
Q K G T V R L W N V E T N T S T V L I E p.180
. | 05 . . . . . g.684556
GGCAAAAAAATT | GAATCATTAAGAGCCATCAGATATGAAATATCTCCAGATAGAGAGTAT c.600
G K K I | E S L R A I R Y E I S P D R E Y p.200
. . | 06. . . . g.755520
GCACTTTTTTCATACAATGTGGAACCC | ATATATCAACACTCGTATACTGGATATTACGTC c.660
A L F S Y N V E P | I Y Q H S Y T G Y Y V p.220
. . | 07 . . . . g.787066
CTGAGCAAAATTCCTCATGG | GGATCCTCAAAGTCTGGACCCACCAGAAGTCAGCAATGCA c.720
L S K I P H G | D P Q S L D P P E V S N A p.240
. . . . | 08 . . g.845451
AAACTTCAGTATGCAGGATGGGGCCCTAAAGGCCAACAGCTG | ATATTTATTTTTGAAAAC c.780
K L Q Y A G W G P K G Q Q L | I F I F E N p.260
. . . . . . g.845511
AATATCTACTACTGTGCACATGTCGGGAAACAGGCCATCCGTGTGGTCTCCACTGGCAAG c.840
N I Y Y C A H V G K Q A I R V V S T G K p.280
. . . . | 09 . . g.887100
GAAGGTGTGATTTACAATGGCCTCAGTGACTGGCTGTATGAAG | AGGAGATTTTGAAGACA c.900
E G V I Y N G L S D W L Y E E | E I L K T p.300
. . . . . . g.887160
CACATCGCACACTGGTGGTCTCCGGATGGCACGAGACTCGCCTACGCCGCCATCAATGAT c.960
H I A H W W S P D G T R L A Y A A I N D p.320
. . . . . . g.887220
TCCCGTGTCCCCATCATGGAGCTCCCAACTTACACCGGCTCCATCTACCCCACCGTGAAG c.1020
S R V P I M E L P T Y T G S I Y P T V K p.340
. | 10 . . . . g.890553
CCCTACCACTATCCCAAG | GCTGGAAGTGAGAACCCCAGCATTTCCCTACACGTTATTGGC c.1080
P Y H Y P K | A G S E N P S I S L H V I G p.360
. . . . . | 11 . g.911749
TTAAATGGACCCACCCATGATCTGGAGATGATGCCGCCTGATGATCCACGGATGAG | GGAG c.1140
L N G P T H D L E M M P P D D P R M R | E p.380
. . . . . . g.911809
TACTACATCACCATGGTGAAGTGGGCCACCAGCACCAAGGTCGCCGTGACCTGGCTGAAC c.1200
Y Y I T M V K W A T S T K V A V T W L N p.400
. . . . . . g.911869
CGGGCGCAGAACGTGTCCATCCTCACCCTCTGCGACGCCACCACGGGGGTCTGCACGAAG c.1260
R A Q N V S I L T L C D A T T G V C T K p.420
| 12 . . . | 13 . . g.919042
| AAACACGAGGATGAAAGTGAGGCCTGGCTCCACAGACAG | AATGAAGAACCTGTGTTCTCC c.1320
| K H E D E S E A W L H R Q | N E E P V F S p.440
. . . . . . g.919102
AAGGATGGCCGAAAGTTTTTCTTCATCAGAGCCATCCCCCAGGGAGGACGAGGGAAATTC c.1380
K D G R K F F F I R A I P Q G G R G K F p.460
. . | 14. . . . g.921563
TATCACATCACGGTGTCCTCGTCCCAG | CCCAACAGCAGCAACGACAACATCCAGTCCATC c.1440
Y H I T V S S S Q | P N S S N D N I Q S I p.480
. . . . . | 15 g.922584
ACCTCCGGGGACTGGGACGTGACCAAGATCCTAGCCTACGATGAGAAGGGGAATAAGAT | C c.1500
T S G D W D V T K I L A Y D E K G N K I | p.500
. . . . | 16. . g.924673
TACTTCCTGAGCACGGAGGACCTGCCTCGGAGACGACAACTCTACAG | TGCCAACACGGTG c.1560
Y F L S T E D L P R R R Q L Y S | A N T V p.520
. . . . . . g.924733
GGCAACTTCAACAGGCAGTGCCTCTCCTGTGACCTGGTTGAGAACTGCACCTACTTCAGC c.1620
G N F N R Q C L S C D L V E N C T Y F S p.540
. . . . | 17 . . g.971460
GCTTCCTTCAGCCATAGCATGGACTTCTTCCTGCTCAAGTGCGAAG | GTCCTGGTGTTCCT c.1680
A S F S H S M D F F L L K C E G | P G V P p.560
. . . | 18 . . . g.985687
ATGGTGACGGTGCACAACACAACAGATAAGAAAA | AAATGTTTGACCTAGAAACAAATGAA c.1740
M V T V H N T T D K K K | M F D L E T N E p.580
. . . . . . g.985747
CATGTCAAGAAGGCCATAAATGACCGACAGATGCCTAAAGTGGAATACAGGGACATTGAG c.1800
H V K K A I N D R Q M P K V E Y R D I E p.600
. | 19 . . . . . g.990337
ATTGATGATTACA | ACCTGCCCATGCAGATACTGAAGCCAGCAACCTTCACCGACACCACC c.1860
I D D Y N | L P M Q I L K P A T F T D T T p.620
. . | 20 . . . . g.993609
CACTACCCTCTGCTCCTGGTGGT | GGATGGCACCCCAGGCAGCCAGAGTGTGGCTGAGAAG c.1920
H Y P L L L V V | D G T P G S Q S V A E K p.640
. . . . . . g.993669
TTCGAGGTGAGCTGGGAGACGGTGATGGTGAGCAGCCACGGCGCGGTGGTGGTAAAGTGT c.1980
F E V S W E T V M V S S H G A V V V K C p.660
. . . . . . g.993729
GACGGCCGTGGCAGCGGCTTCCAAGGGACCAAGCTCCTGCACGAAGTGAGGCGGCGGCTG c.2040
D G R G S G F Q G T K L L H E V R R R L p.680
. . . | 21 . . g.998576
GGCTTGCTGGAGGAGAAGGACCAGATGGAGGCCGTGCG | GACGATGCTGAAGGAGCAGTAC c.2100
G L L E E K D Q M E A V R | T M L K E Q Y p.700
. . . | 22 . . . g.1003326
ATTGACAGGACGCGCGTGGCCGTGTTTGGGAAG | GATTACGGTGGCTACCTGAGCACCTAC c.2160
I D R T R V A V F G K | D Y G G Y L S T Y p.720
. . . . . . g.1003386
ATCCTCCCAGCAAAGGGAGAAAATCAAGGCCAGACATTCACCTGCGGCTCTGCTCTCTCT c.2220
I L P A K G E N Q G Q T F T C G S A L S p.740
. . | 23 . . . . g.1005377
CCAATAACAGACTTCAAACTCTATG | CCTCTGCGTTTTCCGAGAGGTACTTGGGCCTCCAT c.2280
P I T D F K L Y A | S A F S E R Y L G L H p.760
. . | 24 . . . . g.1006974
GGACTTGACAACAGAGCATACGAG | ATGACCAAGGTAGCCCATCGAGTCTCCGCGCTGGAA c.2340
G L D N R A Y E | M T K V A H R V S A L E p.780
. . . | 25. . . g.1007146
GAACAGCAGTTCCTGATCATTCATCCCACTGCCGATG | AAAAAATTCATTTCCAGCACACA c.2400
E Q Q F L I I H P T A D E | K I H F Q H T p.800
. . . . . | 26 . g.1010009
GCAGAACTCATTACACAACTAATTAGGGGAAAGGCTAATTACAGCTTACAG | ATTTACCCG c.2460
A E L I T Q L I R G K A N Y S L Q | I Y P p.820
. . . . . . g.1010069
GACGAAAGCCATTACTTTACCAGCTCCAGCCTCAAACAGCATCTGTACCGGTCCATCATC c.2520
D E S H Y F T S S S L K Q H L Y R S I I p.840
. . . . . . g.1010129
AACTTCTTCGTGGAATGCTTCAGGATCCAGGACAAACTGCTGACAGTCACAGCGAAAGAG c.2580
N F F V E C F R I Q D K L L T V T A K E p.860
. g.1010147
GACGAGGAGGAGGACTAA c.2598
D E E E D X p.865
. . . . . . g.1010207
gctcaggtcgctctaagcacaaacgtggctctttctacaaccagatgcaaccgagggatt c.*60
. . . . . . g.1010267
tccctgccctccctcttccctcggaggggcggggcggggcggggccgggtgttccatagc c.*120
. . . . . . g.1010327
atgtgtgtctcggatgcggaaggcagttttgcttgggaaacaagctccttccccggggtc c.*180
. . . . . . g.1010387
atcactcacggcctccatggcaccagggacaacgctgtccccgcagcagcgcctcctccc c.*240
. . . . . . g.1010447
ggcgcccgagagaccggcacgccacggcccctcccccaaggaacagagcaaaggatggtg c.*300
. . . . . . g.1010507
gccgcaggccccacgcgagcccacaggacaccggcccctagattccagccaccaagcgga c.*360
. . . . . . g.1010567
agcatgagacccgcccacactagcctctgtgttcccgttagggacatcacaccctgtctc c.*420
. . . . . . g.1010627
acgtcgcagtgccatggacgcagcagttacagcaccattgttttagcagtgcgtgttcat c.*480
. . . . . . g.1010687
atatgggcttgctacttcctgtaatgaggacgttcaacatggtgaggggctacaagaaaa c.*540
. . . . . . g.1010747
cgcttttctgtacagagtcttactgtagctacgctaatggttaacctgatagaattaact c.*600
. . . . . . g.1010807
cgtatttttctatggttttaacctgatgctccactgtctccgtcatggggttgttttgct c.*660
. . . . . . g.1010867
gtttggggttgggccttgtttccctttcctttctccagtccacgtgtagactttgcgctt c.*720
. . . . . . g.1010927
gatgaagaagcagatcggaagtaactgctccctcctcaaggttgtcttcagacgtcttgg c.*780
. . . . . . g.1010987
ggacgttcctaaacactgagggggaagacagccaatagcacccattaaaagaaataccta c.*840
. . . . . . g.1011047
aataaaacctctctcccactcagctatgctagggcttggctgtaggtgtgcactgtctat c.*900
. . . . . . g.1011107
ttacatccgtccttacaaccatccttgtcctccttggtaccgtatcaagctctttcccat c.*960
. . . . . . g.1011167
gacatttggtttaaaaaaaaaaaaaaaaaaaaaaaaaaaacagaaaaaagacaaagcgtc c.*1020
. . . . . . g.1011227
aactccacccacaggcccgctgtgtgtgctcgggccacgggagtcctgagggttctgtgg c.*1080
. . . . . . g.1011287
gcctgcgcgcatccctctcccatcgtgggggtggctccgtgaccttcctgccacgagcag c.*1140
. . . . . . g.1011347
gaggttgatgatgtgctacgttagccttgtaagatacacccccaccaaatgtgcagccgg c.*1200
. . . . . . g.1011407
tgttcccagtgtatatttcattctcttgtatataaaggaagcaatgtgtgtcaggcctct c.*1260
. . . . . . g.1011467
gtgcagtcaacccagcctcctcccgccagtgctaaccccgtgttgagcctgcatgctgac c.*1320
. . . . . . g.1011527
actgtggccgatctggactctagaagtgctagtttgaaatatatccattactgtcatttc c.*1380
. . . . . . g.1011587
cttttgagcttgtggacaagctgaatgtcaggactgacttcgccagctcccagccctgcg c.*1440
. . . . . . g.1011647
ggggtgtccttggcatcccatcagcagaggagatgcgtccctgttgcattttggcgtttg c.*1500
. . . . . . g.1011707
gggctttgggtttatccacatgagctctgaacgtccgttatagttagggtgattggaagg c.*1560
. . . . . . g.1011767
tctccatcactgggtgttttaaaggtgattcaccaccatttgtgaaaggaccaacgtgct c.*1620
. . . . . . g.1011827
gataaacaggaccgatccgagtgctacatgactgtgcgtttgctatttcaatgggcctga c.*1680
. . . . . . g.1011887
acgactacaaagccagctaggtctggaaggggaagccagctctggccacgacatctggtc c.*1740
. . . . . . g.1011947
ggagggaagtggggatgtggcatggtagcgtctgttcatccatggaataaaacattattt c.*1800
g.1011952
tacca c.*1805
(downstream sequence)
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