(used for variant description)
(last modified April 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001242896.1 in the DEPDC5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034067.1, covering DEPDC5 transcript NM_001242896.1.
(upstream sequence)
. . g.5094
ctagtaggcgcttcaggcttag c.-181
. . . . . . g.5154
gggcggaacagcgcgggccgcgcgggcgtaggcggggtatctggaggaggcgcagggaac c.-121
. . . . . . g.5214
ctggagagggtccagccctcagtgccccggccagaggcgggaaggggctctagagcttcg c.-61
| 02 . . . . . g.5971
| ggaggcaagatgacttctctgccccaagcttggaacagctaaagggaaaaacagtgcaag c.-1
. . . . . | 03 g.9597
ATGAGAACAACAAAGGTCTACAAACTCGTCATCCACAAGAAGGGCTTTGGGGGCAGTG | AT c.60
M R T T K V Y K L V I H K K G F G G S D | p.20
. . . . . . g.9657
GATGAGCTAGTTGTGAACCCCAAAGTGTTCCCTCACATCAAGCTTGGAGACATTGTAGAG c.120
D E L V V N P K V F P H I K L G D I V E p.40
. . | 04 . . . . g.11739
ATTGCACACCCCAACGATGAATACAG | CCCTCTGCTTTTGCAGGTCAAGTCTCTTAAGGAA c.180
I A H P N D E Y S | P L L L Q V K S L K E p.60
. | 05 . . . . . g.16071
GATTTACAGAAGG | AAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGA c.240
D L Q K E | T I S V D Q T V T Q V F R L R p.80
. . . | 06 . . g.17655
CCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAG | GATGTGACCCTTGACCTAGTG c.300
P Y Q D V Y V N V V D P K | D V T L D L V p.100
. . . . . . g.17715
GAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGT c.360
E L T F K D Q Y I G R G D M W R L K K S p.120
| 07 . . . . . | 08 . g.29155
TTG | GTCAGCACATGTGCCTATATCACCCAGAAGGTGGAGTTTGCTGGCATCAG | AGCACAG c.420
L | V S T C A Y I T Q K V E F A G I R | A Q p.140
. . . . . . g.29215
GCTGGTGAACTGTGGGTTAAGAATGAGAAGGTCATGTGTGGCTACATCAGTGAAGATACC c.480
A G E L W V K N E K V M C G Y I S E D T p.160
| 09 . . . . . . g.35013
AGG | GTGGTGTTTCGTTCTACGTCGGCTATGGTTTACATATTTATTCAGATGAGCTGTGAA c.540
R | V V F R S T S A M V Y I F I Q M S C E p.180
. . | 10 . . . . g.35901
ATGTGGGATTTTGATATTTATG | GGGATTTGTATTTTGAGAAAGCTGTGAATGGTTTCCTT c.600
M W D F D I Y G | D L Y F E K A V N G F L p.200
. . | 11 . . . . g.43118
GCTGATCTATTTACCAAGTGGAAG | GAGAAGAACTGTAGTCATGAAGTGACAGTGGTCCTG c.660
A D L F T K W K | E K N C S H E V T V V L p.220
. . . | 12 . . . g.43820
TTTTCTAGAACTTTCTATGATGCAAAATCTGTTG | ATGAATTTCCTGAAATAAACCGAGCC c.720
F S R T F Y D A K S V D | E F P E I N R A p.240
. . . . | 13. . g.48662
TCAATTCGACAGGATCACAAGGGGAGATTCTATGAAGACTTTTACAA | AGTGGTGGTGCAG c.780
S I R Q D H K G R F Y E D F Y K | V V V Q p.260
. . . . . . g.48722
AATGAGAGAAGAGAAGAATGGACTTCACTTCTCGTAACCATTAAAAAACTCTTCATCCAG c.840
N E R R E E W T S L L V T I K K L F I Q p.280
. . . | 14 . . . g.49660
TATCCAGTGTTGGTGCGACTGGAACAGGCAG | AGGGCTTTCCTCAAGGAGATAATTCTACC c.900
Y P V L V R L E Q A E | G F P Q G D N S T p.300
. . . . | 15 . . g.53767
TCAGCACAAGGAAACTACCTGGAGGCCATCAATCTGTCATTCAATG | TGTTTGATAAGCAC c.960
S A Q G N Y L E A I N L S F N V | F D K H p.320
. . . . . . g.53827
TACATCAACCGCAACTTTGACCGAACTGGGCAGATGTCAGTGGTGATCACGCCCGGGGTG c.1020
Y I N R N F D R T G Q M S V V I T P G V p.340
. . . . . . g.53887
GGTGTCTTTGAAGTGGACCGCCTACTCATGATCCTGACCAAGCAGCGGATGATAGATAAT c.1080
G V F E V D R L L M I L T K Q R M I D N p.360
| 16 . . . . . . g.55270
G | GAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTC c.1140
G | I G V D L V C M G E Q P L H A V P L F p.380
| 17 . . . . . . g.55948
AAG | CTCCATAATCGGAGTGCTCCCCGTGATTCTCGTCTGGGCGATGACTATAATATCCCT c.1200
K | L H N R S A P R D S R L G D D Y N I P p.400
. | 18. . . . . g.57214
CACTGGATAAACCACAG | TTTCTACACATCCAAAAGCCAGCTCTTTTGTAATAGTTTCACC c.1260
H W I N H S | F Y T S K S Q L F C N S F T p.420
. . | 19. . . . g.60693
CCACGAATAAAACTGGCAGGAAAGAAG | CCCGCCTCTGAGAAAGCAAAAAATGGCCGTGAT c.1320
P R I K L A G K K | P A S E K A K N G R D p.440
| 20 . . . . . . g.61626
ACAT | CTCTCGGGAGTCCAAAAGAATCTGAGAACGCCCTTCCCATCCAAGTAGATTATGAC c.1380
T S | L G S P K E S E N A L P I Q V D Y D p.460
. . . . . . g.61686
GCCTATGACGCTCAAGTGTTCAGGCTGCCCGGCCCATCCCGGGCCCAGTGCCTCACCACC c.1440
A Y D A Q V F R L P G P S R A Q C L T T p.480
| 21 . . . . . . g.66096
TGCAG | ATCTGTGCGAGAGCGAGAGAGTCACAGTCGAAAGAGTGCCAGCTCCTGTGATGTT c.1500
C R | S V R E R E S H S R K S A S S C D V p.500
. . . . . . g.66156
TCATCCAGCCCTTCCCTACCAAGCCGCACACTGCCCACTGAGGAAGTGAGGAGCCAGGCT c.1560
S S S P S L P S R T L P T E E V R S Q A p.520
. . . . . . g.66216
TCTGACGACAGCTCCCTAGGCAAGAGTGCCAACATCCTGATGATCCCACACCCCCACCTG c.1620
S D D S S L G K S A N I L M I P H P H L p.540
. . . . | 22 . . g.70085
CACCAGTATGAAGTCAGCAGCTCCTTGGGATACACCAGCACTCGAG | ATGTCCTGGAGAAC c.1680
H Q Y E V S S S L G Y T S T R D | V L E N p.560
. . . . . . g.70145
ATGATGGAGCCACCACAGCGAGACTCCAGTGCACCAGGGAGGTTTCACGTTGGCAGTGCA c.1740
M M E P P Q R D S S A P G R F H V G S A p.580
. . . . . . g.70205
GAATCCATGCTGCATGTTCGACCTGGTGGATACACGCCCCAGAGAGCACTGATTAACCCC c.1800
E S M L H V R P G G Y T P Q R A L I N P p.600
. . . . . . g.70265
TTCGCTCCCTCTCGGATGCCCATGAAGCTTACGTCCAACAGAAGGCGCTGGATGCACACT c.1860
F A P S R M P M K L T S N R R R W M H T p.620
. | 23 . . . . . g.72601
TTTCCTGTGG | GGCCATCCGGAGAAGCCATCCAGATCCACCACCAGACCCGACAGAATATG c.1920
F P V G | P S G E A I Q I H H Q T R Q N M p.640
. . . . . . g.72661
GCGGAGCTACAAGGCAGCGGGCAGAGGGATCCAACTCACTCCTCTGCAGAGCTGCTGGAG c.1980
A E L Q G S G Q R D P T H S S A E L L E p.660
. . | 24 . . . . g.73776
TTAGCATATCATGAAGCTGCTGGAAG | GCACAGCAATTCCCGCCAGCCTGGTGACGGCATG c.2040
L A Y H E A A G R | H S N S R Q P G D G M p.680
. . . . . . g.73836
TCCTTCTTGAACTTCAGTGGAACAGAGGAGCTTTCTGTCGGCCTGCTTAGCAACAGTGGT c.2100
S F L N F S G T E E L S V G L L S N S G p.700
| 25 . . . . . . g.85020
GCAG | GTATGAATCCTAGGACCCAGAATAAGGATTCTCTAGAGGACAGTGTTTCTACCTCT c.2160
A G | M N P R T Q N K D S L E D S V S T S p.720
. | 26 . . . . . g.88071
CCAGACCCAA | TTCTGACACTGTCTGCTCCCCCTGTAGTGCCAGGCTTCTGTTGCACAGTT c.2220
P D P I | L T L S A P P V V P G F C C T V p.740
. . . . . . g.88131
GGAGTGGACTGGAAGTCTCTCACTACTCCGGCGTGCCTCCCCCTTACCACCGACTACTTC c.2280
G V D W K S L T T P A C L P L T T D Y F p.760
. . . . . . g.88191
CCTGACCGCCAGGGCCTGCAGAATGACTACACAGAGGGCTGTTATGATCTCCTTCCAGAA c.2340
P D R Q G L Q N D Y T E G C Y D L L P E p.780
. | 27 . . . . . g.89780
GCAGACATCGACAG | GAGGGACGAAGATGGTGTGCAGATGACAGCCCAGCAGGTATTTGAA c.2400
A D I D R | R D E D G V Q M T A Q Q V F E p.800
. . . . . . g.89840
GAGTTTATTTGCCAACGTCTCATGCAGGGCTACCAAATCATAGTGCAGCCCAAGACACAG c.2460
E F I C Q R L M Q G Y Q I I V Q P K T Q p.820
. . . . . | 28 . g.94149
AAACCCAATCCTGCTGTCCCGCCCCCGCTGAGCAGTAGCCCACTCTATAGCCGAG | GCCTT c.2520
K P N P A V P P P L S S S P L Y S R G | L p.840
. . . . . . g.94209
GTGTCCCGAAACCGCCCTGAGGAGGAGGACCAGTATTGGCTGAGTATGGGCAGAACGTTC c.2580
V S R N R P E E E D Q Y W L S M G R T F p.860
. . . . . | 29 . g.94701
CACAAAGTGACGCTGAAGGATAAGATGATCACAGTGACGCGATACCTTCCCAA | GTATCCT c.2640
H K V T L K D K M I T V T R Y L P K | Y P p.880
. . . . . . g.94761
TATGAATCTGCCCAGATCCACTACACCTACAGCCTCTGTCCTTCCCACTCAGACTCAGAG c.2700
Y E S A Q I H Y T Y S L C P S H S D S E p.900
. . . . . . g.94821
TTCGTCTCCTGCTGGGTGGAATTCTCCCACGAACGGCTGGAGGAGTACAAGTGGAATTAC c.2760
F V S C W V E F S H E R L E E Y K W N Y p.920
. . . . | 30 . . g.96086
TTAGATCAGTATATCTGTTCTGCCGGCTCTGAAGACTTCAG | CTTAATTGAGTCCCTGAAG c.2820
L D Q Y I C S A G S E D F S | L I E S L K p.940
. . . . . . g.96146
TTCTGGAGGACCCGCTTCCTGCTGCTGCCAGCCTGTGTCACCGCCACCAAGCGCATCACG c.2880
F W R T R F L L L P A C V T A T K R I T p.960
. . . . . . g.96206
GAGGGGGAGGCCCACTGCGACATCTATGGGGACAGGCCCCGTGCAGACGAGGACGAGTGG c.2940
E G E A H C D I Y G D R P R A D E D E W p.980
. . . . . . g.96266
CAACTCCTGGATGGTTTTGTCCGCTTTGTGGAGGGCTTGAATCGCATTCGCAGGCGGCAT c.3000
Q L L D G F V R F V E G L N R I R R R H p.1000
. . | 31 . . . . g.97922
CGCTCGGATCGCATGATGCGG | AAAGGGACCGCCATGAAAGGCTTGCAGATGACTGGGCCC c.3060
R S D R M M R | K G T A M K G L Q M T G P p.1020
. . . . . . g.97982
ATTTCCACGCATTCTCTGGAGTCAACTGCACCCCCAGTGGGGAAGAAGGGAACCTCAGCT c.3120
I S T H S L E S T A P P V G K K G T S A p.1040
. . . | 32 . . . g.108519
CTCTCTGCCCTGTTGGAGATGGAGGCCAGTCAGAA | GTGCCTGGGAGAACAGCAGGCAGCT c.3180
L S A L L E M E A S Q K | C L G E Q Q A A p.1060
. . . . . . g.108579
GTGCATGGTGGGAAGAGCTCCGCCCAGTCAGCCGAGAGCAGCAGCGTTGCCATGACTCCC c.3240
V H G G K S S A Q S A E S S S V A M T P p.1080
. . | 33 . . . . g.112453
ACCTACATGGACAGCCCACGAAAG | GACGGGGCCTTCTTTATGGAGTTTGTCCGCAGCCCA c.3300
T Y M D S P R K | D G A F F M E F V R S P p.1100
. . . | 34 . . . g.121669
CGCACAGCATCGTCCGCCTTCTACCCTCAG | GTATCTGTGGACCAAACAGCCACTCCTATG c.3360
R T A S S A F Y P Q | V S V D Q T A T P M p.1120
. . . . . . g.121729
TTGGACGGCACCAGTTTGGGCATATGCACAGGCCAATCCATGGACAGAGGCAACAGCCAG c.3420
L D G T S L G I C T G Q S M D R G N S Q p.1140
. . . . . . g.121789
ACCTTTGGGAACTCCCAGAACATAGGAGAACAGGGCTACTCCTCCACAAACTCCAGTGAC c.3480
T F G N S Q N I G E Q G Y S S T N S S D p.1160
| 35 . . . . . . g.124359
AGCAG | CTCTCAGCAGCTGGTGGCAAGCTCCTTGACCTCATCCTCTACCCTGACAGAGATC c.3540
S S | S Q Q L V A S S L T S S S T L T E I p.1180
. . | 36 . . . . g.125359
CTGGAAGCCATGAAGCACCCCTC | GACAGGAGTCCAGCTGCTCTCTGAACAGAAGGGCCTC c.3600
L E A M K H P S | T G V Q L L S E Q K G L p.1200
. . . . . . g.125419
TCACCGTACTGCTTCATCAGCGCGGAGGTGGTACACTGGTTGGTGAACCACGTGGAGGGG c.3660
S P Y C F I S A E V V H W L V N H V E G p.1220
. . . | 37 . . . g.127230
ATCCAGACACAGGCGATGGCCATTGACATCATGCAG | AAAATGCTGGAAGAGCAGCTCATC c.3720
I Q T Q A M A I D I M Q | K M L E E Q L I p.1240
. . . . . . g.127290
ACACATGCATCTGGCGAAGCCTGGCGGACCTTCATCTACGGCTTCTATTTCTACAAGATA c.3780
T H A S G E A W R T F I Y G F Y F Y K I p.1260
. . | 38 . . . . g.130609
GTAACGGACAAAGAGCCCGACCGAG | TGGCCATGCAGCAGCCCGCCACCACCTGGCACACA c.3840
V T D K E P D R V | A M Q Q P A T T W H T p.1280
. . . . . . g.130669
GCAGGAGTGGACGACTTCGCCAGCTTCCAGCGCAAGTGGTTTGAGGTGGCCTTTGTGGCA c.3900
A G V D D F A S F Q R K W F E V A F V A p.1300
. . . . . . g.130729
GAAGAGCTCGTGCACTCTGAGATTCCTGCCTTTCTCCTGCCCTGGCTGCCTAGCCGGCCA c.3960
E E L V H S E I P A F L L P W L P S R P p.1320
. . . . . . g.130789
GCCTCCTATGCAAGTAGGCACAGCTCCTTTAGCCGAAGTTTTGGAGGACGGAGCCAGGCG c.4020
A S Y A S R H S S F S R S F G G R S Q A p.1340
. | 39 . . . . . g.144678
GCAGCACTTTTAG | CTGCCACTGTCCCAGAGCAGAGGACTGTGACCCTGGATGTTGACGTG c.4080
A A L L A | A T V P E Q R T V T L D V D V p.1360
. . . . . . g.144738
AACAACCGCACAGACCGGCTGGAGTGGTGCAGCTGTTATTACCATGGCAACTTTTCTCTG c.4140
N N R T D R L E W C S C Y Y H G N F S L p.1380
. . . . . . g.144798
AATGCAGCCTTTGAGATCAAGCTGCACTGGATGGCGGTGACCGCAGCAGTACTCTTCGAG c.4200
N A A F E I K L H W M A V T A A V L F E p.1400
| 40 . . . . . . g.148588
ATG | GTCCAAGGTTGGCATCGGAAAGCCACCTCCTGTGGCTTCTTGTTAGTCCCAGTTTTG c.4260
M | V Q G W H R K A T S C G F L L V P V L p.1420
. . . . . . g.148648
GAGGGGCCTTTTGCACTGCCCAGTTACCTGTATGGCGACCCCCTTCGTGCCCAGCTCTTC c.4320
E G P F A L P S Y L Y G D P L R A Q L F p.1440
. . . . . | 41 . g.152796
ATCCCACTCAACATCAGCTGCTTGCTCAAGGAGGGCAGCGAGCACCTGTTTGATA | GCTTT c.4380
I P L N I S C L L K E G S E H L F D S | F p.1460
. . . . . | 42 . g.157037
GAACCCGAAACGTACTGGGATCGAATGCACCTCTTCCAGGAAGCCATTGCACACAG | GTTT c.4440
E P E T Y W D R M H L F Q E A I A H R | F p.1480
. . . . . . g.157097
GGGTTTGTACAAGATAAATATTCTGCCTCTGCTTTTAACTTCCCTGCTGAGAACAAGCCT c.4500
G F V Q D K Y S A S A F N F P A E N K P p.1500
. | 43 . . . . g.157295
CAGTATATCCACGTTACAG | GAACAGTGTTTCTGCAGCTGCCCTACTCCAAGCGCAAGTTC c.4560
Q Y I H V T G | T V F L Q L P Y S K R K F p.1520
. . . . . . g.157355
TCAGGGCAGCAGCGGCGGCGGCGGAACTCCACCAGCTCCACCAACCAGAACATGTTCTGC c.4620
S G Q Q R R R R N S T S S T N Q N M F C p.1540
. . . . . . g.157415
GAGGAGCGGGTCGGCTACAACTGGGCCTACAACACCATGCTCACCAAAACATGGCGCTCC c.4680
E E R V G Y N W A Y N T M L T K T W R S p.1560
. . . . . . g.157475
AGCGCCACAGGGGATGAAAAGTTTGCTGATCGGCTGCTGAAGGACTTCACGGACTTCTGC c.4740
S A T G D E K F A D R L L K D F T D F C p.1580
. . . . . . g.157535
ATCAACCGTGACAACCGGCTGGTCACGTTCTGGACAAGTTGCCTGGAGAAGATGCATGCC c.4800
I N R D N R L V T F W T S C L E K M H A p.1600
. g.157547
AGTGCCCCGTGA c.4812
S A P X p.1603
. . . . . . g.157607
ggccaggctgcacctgtgctgggggaaggtgggtgagccactgccctcaaacccggggcg c.*60
. . . . . . g.157667
gaggattccaggcaggctctaggagtcaggtgtccgtttgctgctatcagtgagtggggg c.*120
. . . . . . g.157727
ccattgttttttgtttgtttgtttgtttgtttgtttgtttttggcccccacgacaagtct c.*180
. . . . . . g.157787
tctactctagaagaaagactttggaagcagctgctgctgctgccaccactcctgtcagca c.*240
. . . . . . g.157847
agtgctcagagcaggtgggaggcacagattgtccgtgggagggctccagtgtctgggaag c.*300
. . . . . . g.157907
agggcaggcggcccccatgaatgtcctcggaagggggtggctcctggtagcatccttttc c.*360
. . . . . . g.157967
cttcaccatctatgggatattaggggcagaatctgccacttcttgcccaggagtgtgcac c.*420
. . . . . . g.158027
agatgtaagataattttgtgaaataatgtaccatagactctcaccaactgtatatacctg c.*480
. . . . . g.158084
tacatatcagaagcaaataaagagctccacgtgcatcatttctttccccacccagtt c.*537
(downstream sequence)
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