(used for variant description)
(last modified June 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001080517.1 in the SETD5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034133.1, covering SETD5 transcript NM_001080517.1.
(upstream sequence)
. g.5015
gctcagagactcacg c.-421
. . . . . . g.5075
cagccccagtcccgccagtccgccaacacagtagtgccggcccccctctttccctggccc c.-361
. . . . . . g.5135
tgccccccctccccgcctttggctcgctccgcctttctgccccccacccccacctcacgg c.-301
. . . . . . g.5195
gtacgggccattcccggccaggaaacgccgtggcgccgcgttgggcctaactcgagtcct c.-241
. . . . . . g.5255
gccgcctcccgggagtgccgtgcgccgcagcccgggcccaggccccggcagcgcctggga c.-181
. | 02 . . . . . g.31804
caag | gtcttcagaactactagcagataatttggggggacttcatattcagaagtctatat c.-121
. | 03 . . . . . g.36160
aaag | gattcctcatgtccataacatgttggatgaggctctgcagctcacccccactctca c.-61
. . . . . . g.36220
gagtggtcagtctccattaattggaccccgtgatttccaatctctgctgtgttggacgtc c.-1
. . . . . . g.36280
ATGAGCATTGCAATCCCTCTGGGAGTCACCACATCAGATACATCCTACTCAGATATGGCT c.60
M S I A I P L G V T T S D T S Y S D M A p.20
. | 04 . . . . . g.41175
GCTGGATCAGA | CCCTGAATCTGTGGAGGCTAGTCCAGCAGTTAATGAGAAGAGCGTGTAT c.120
A G S D | P E S V E A S P A V N E K S V Y p.40
. . . . . | 05. g.41618
TCCACTCATAATTATGGGACCACTCAGAGGCATGGGTGTCGAGGACTGCCTTATGCT | ACG c.180
S T H N Y G T T Q R H G C R G L P Y A | T p.60
. . . . . . g.41678
ATCATCCCTCGTTCTGACCTGAATGGCCTGCCGTCGCCTGTAGAGGAACGCTGTGGAGAC c.240
I I P R S D L N G L P S P V E E R C G D p.80
. . . . . . g.41738
AGCCCGAACTCTGAAGGAGAAACTGTACCTACCTGGTGTCCTTGTGGTCTTTCTCAGGAT c.300
S P N S E G E T V P T W C P C G L S Q D p.100
. . | 06 . . . g.42136
GGCTTCCTTCTCAACTGTGACAAGTGCAG | GGGAATGAGCAGGGGGAAGGTTATTAGACTT c.360
G F L L N C D K C R | G M S R G K V I R L p.120
. . | 07 . . . g.43041
CATCGGCGGAAGCAGGACAACATATCAG | GTGGGGATAGCAGTGCAACAGAAAGCTGGGAT c.420
H R R K Q D N I S G | G D S S A T E S W D p.140
. . . . . . g.43101
GAGGAGCTTTCTCCTTCCACTGTGTTGTATACAGCAACACAGCACACACCTACAAGCATC c.480
E E L S P S T V L Y T A T Q H T P T S I p.160
. . . . . . g.43161
ACCTTAACTGTTAGAAGAACCAAACCCAAGAAGCGGAAAAAGAGTCCAGAAAAGGGTCGT c.540
T L T V R R T K P K K R K K S P E K G R p.180
. . | 08. . . . g.47770
GCAGCACCAAAGACGAAGAAAATCAAG | AATTCTCCCTCTGAAGCACAGAATTTAGATGAG c.600
A A P K T K K I K | N S P S E A Q N L D E p.200
. . . . . . g.47830
AATACAACTGAGGGCTGGGAAAATCGGATAAGACTATGGACTGACCAGTATGAAGAAGCT c.660
N T T E G W E N R I R L W T D Q Y E E A p.220
. . . . . . g.47890
TTCACTAATCAGTACAGTGCAGATGTACAGAACGCGCTTGAACAACACCTACATTCTAGC c.720
F T N Q Y S A D V Q N A L E Q H L H S S p.240
. . . . . . g.47950
AAGGAATTTGTGGGCAAACCTACTATTTTAGACACTATTAATAAGACTGAATTGGCCTGT c.780
K E F V G K P T I L D T I N K T E L A C p.260
. . . | 09 . . . g.48904
AATAACACAGTTATTGGTTCCCAAATGCAG | TTACAGCTGGGAAGAGTCACTCGTGTTCAA c.840
N N T V I G S Q M Q | L Q L G R V T R V Q p.280
. . . . . . g.48964
AAGCACCGGAAGATCCTGAGGGCTGCAAGAGATTTGGCTTTGGACACTCTTATAATAGAG c.900
K H R K I L R A A R D L A L D T L I I E p.300
. . . . . | 10 g.49410
TATCGTGGGAAAGTCATGTTACGACAGCAATTTGAGGTCAATGGGCATTTCTTCAAAAA | A c.960
Y R G K V M L R Q Q F E V N G H F F K K | p.320
. . . . . . g.49470
CCATACCCCTTTGTGCTCTTCTACTCAAAATTCAATGGTGTAGAGATGTGTGTGGATGCC c.1020
P Y P F V L F Y S K F N G V E M C V D A p.340
. . . . . | 11. g.50592
CGTACTTTCGGTAATGATGCTCGGTTCATCAGAAGATCATGTACACCAAATGCAGAG | GTG c.1080
R T F G N D A R F I R R S C T P N A E | V p.360
. . . . . . g.50652
CGACACATGATTGCAGATGGGATGATTCACCTGTGCATCTATGCTGTGTCTGCCATCACC c.1140
R H M I A D G M I H L C I Y A V S A I T p.380
. . . . | 12. . g.52342
AAGGATGCTGAGGTCACCATAGCATTTGATTATGAGTATAGTAACTG | TAATTATAAAGTG c.1200
K D A E V T I A F D Y E Y S N C | N Y K V p.400
. . . . . . g.52402
GACTGTGCCTGTCACAAGGGAAACCGGAATTGTCCTATACAAAAAAGGAATCCTAATGCT c.1260
D C A C H K G N R N C P I Q K R N P N A p.420
. . . . . . g.52462
ACAGAACTGCCACTCCTACCACCTCCTCCAAGCCTACCCACCATTGGAGCAGAGACTAGA c.1320
T E L P L L P P P P S L P T I G A E T R p.440
. . . . . . g.52522
CGTAGAAAAGCACGACGGAAAGAGCTAGAGATGGAGCAGCAGAATGAGGCTTCAGAGGAG c.1380
R R K A R R K E L E M E Q Q N E A S E E p.460
. . . . . . g.52582
AATAATGACCAGCAATCACAAGAAGTTCCAGAAAAAGTAACTGTATCCAGTGATCATGAG c.1440
N N D Q Q S Q E V P E K V T V S S D H E p.480
| 13 . . . . . . g.52998
| GAAGTAGACAATCCAGAAGAAAAACCAGAAGAAGAGAAAGAAGAGGTTATAGATGACCAG c.1500
| E V D N P E E K P E E E K E E V I D D Q p.500
. . | 14 . . . . g.54367
GAGAACCTAGCTCATAGCAGGAGG | ACCAGGGAAGATAGAAAGGTAGAAGCCATCATGCAT c.1560
E N L A H S R R | T R E D R K V E A I M H p.520
. . . . . . g.54427
GCTTTTGAAAACTTAGAGAAAAGAAAGAAGCGGCGGGATCAGCCCTTGGAACAGAGCAAC c.1620
A F E N L E K R K K R R D Q P L E Q S N p.540
. . . . . . g.54487
TCTGATGTAGAGATTACTACAACCACCTCAGAGACTCCTGTTGGTGAAGAGACAAAAACT c.1680
S D V E I T T T T S E T P V G E E T K T p.560
. . . . . . g.54547
GAAGCCCCTGAATCTGAAGTTAGCAACTCTGTTTCAAATGTTACCATCCCAAGCACCCCA c.1740
E A P E S E V S N S V S N V T I P S T P p.580
. . . . | 15 . . g.54985
CAGAGTGTTGGTGTGAATACCCGGAGGTCTTCCCAAGCAGGG | GATATTGCTGCAGAAAAA c.1800
Q S V G V N T R R S S Q A G | D I A A E K p.600
. . . . . . g.55045
CTAGTCCCCAAGCCACCTCCAGCAAAGCCTTCTAGGCCCCGGCCGAAGAGTCGAATTTCT c.1860
L V P K P P P A K P S R P R P K S R I S p.620
. . . . . . g.55105
CGGTACAGGACCAGTTCAGCCCAAAGACTAAAGCGTCAGAAGCAGGCCAATGCACAGCAG c.1920
R Y R T S S A Q R L K R Q K Q A N A Q Q p.640
. . . . . . g.55165
GCAGAATTGTCACAAGCTGCCTTGGAAGAGGGAGGAAGTAACAGTTTAGTAACTCCTACT c.1980
A E L S Q A A L E E G G S N S L V T P T p.660
. . . . . . g.55225
GAAGCTGGAAGTCTAGACAGTTCAGGAGAAAACAGGCCATTAACAGGGTCTGACCCAACT c.2040
E A G S L D S S G E N R P L T G S D P T p.680
. . . . . . g.55285
GTGGTGTCAATTACTGGATCCCATGTCAACCGTGCTGCATCTAAATACCCCAAAACCAAA c.2100
V V S I T G S H V N R A A S K Y P K T K p.700
| 16 . . . . . . g.55726
AAG | TATCTAGTTACAGAATGGTTGAATGACAAAGCAGAGAAGCAAGAGTGCCCTGTTGAG c.2160
K | Y L V T E W L N D K A E K Q E C P V E p.720
. . . . . . g.55786
TGCCCTTTACGTATCACAACGGATCCAACTGTACTGGCAACGACCCTAAACATGTTACCA c.2220
C P L R I T T D P T V L A T T L N M L P p.740
. . . . . . g.55846
GGTCTTATCCATTCCCCGTTAATTTGCACCACCCCCAAACACTACATTCGCTTTGGCTCA c.2280
G L I H S P L I C T T P K H Y I R F G S p.760
. . . . . . g.55906
CCCTTTATCCCTGAGAGACGTCGAAGGCCCCTTCTGCCTGATGGCACATTCAGCTCCTGT c.2340
P F I P E R R R R P L L P D G T F S S C p.780
| 17 . . . . . . g.61074
AAGAAG | CGCTGGATAAAACAAGCCTTAGAAGAAGGGATGACTCAAACATCATCTGTACCC c.2400
K K | R W I K Q A L E E G M T Q T S S V P p.800
. . . . . . g.61134
CAAGAGACTAGAACTCAGCACCTATACCAAAGCAATGAGAATAGTAGCTCTTCTAGTATC c.2460
Q E T R T Q H L Y Q S N E N S S S S S I p.820
. | 18 . . . . . g.71750
TGCAAAGACAATGCAG | ACTTGTTGAGCCCATTAAAGAAATGGAAGTCTCGCTATCTGATG c.2520
C K D N A D | L L S P L K K W K S R Y L M p.840
. . . . . . g.71810
GAGCAGAATGTCACCAAGTTACTTCGGCCTCTGTCTCCAGTCACACCACCCCCTCCCAAT c.2580
E Q N V T K L L R P L S P V T P P P P N p.860
. . . . . . g.71870
TCAGGCTCAAAGAGTCCCCAGCTGGCCACACCTGGCTCATCTCACCCAGGAGAAGAGGAG c.2640
S G S K S P Q L A T P G S S H P G E E E p.880
. . . . . . g.71930
TGTCGAAATGGATACAGCCTCATGTTTTCACCAGTCACATCTCTTACTACTGCTAGTCGC c.2700
C R N G Y S L M F S P V T S L T T A S R p.900
. . | 19 . . . . g.77776
TGCAACACTCCTCTACAGTTTGAG | CTTTGTCACCGAAAAGACCTGGATTTGGCAAAAGTA c.2760
C N T P L Q F E | L C H R K D L D L A K V p.920
. . . . . . g.77836
GGATACCTTGACTCCAACACTAACAGCTGTGCTGATAGACCTTCCCTACTCAACTCAGGT c.2820
G Y L D S N T N S C A D R P S L L N S G p.940
. . . . . . g.77896
CATTCTGACCTGGCTCCTCATCCCTCCCTCGGACCCACTTCTGAGACTGGTTTCCCAAGC c.2880
H S D L A P H P S L G P T S E T G F P S p.960
. . . . . . g.77956
AGAAGTGGAGATGGACATCAGACCCTCGTGAGAAACTCAGACCAGGCATTTCGGACAGAG c.2940
R S G D G H Q T L V R N S D Q A F R T E p.980
. . . . . . g.78016
TTCAACTTGATGTATGCCTACTCCCCTTTGAATGCTATGCCTCGAGCAGATGGACTGTAT c.3000
F N L M Y A Y S P L N A M P R A D G L Y p.1000
. . . . . . g.78076
CGAGGATCTCCTCTAGTGGGGGATAGGAAGCCTTTACATTTGGATGGGGGATATTGTTCC c.3060
R G S P L V G D R K P L H L D G G Y C S p.1020
. . . . . . g.78136
CCTGCAGAAGGATTTTCCAGCAGATATGAACATGGCTTAATGAAAGACCTCTCTCGTGGA c.3120
P A E G F S S R Y E H G L M K D L S R G p.1040
. . . . . . g.78196
TCCTTGTCACCTGGTGGTGAAAGGGCCTGTGAAGGAGTCCCATCTGCCCCCCAGAACCCA c.3180
S L S P G G E R A C E G V P S A P Q N P p.1060
. | 20 . . . . . g.80562
CCACAGAGGAAAAAA | GTATCCCTGCTGGAGTACCGAAAACGGAAACAAGAAGCTAAGGAA c.3240
P Q R K K | V S L L E Y R K R K Q E A K E p.1080
. . . . . . g.80622
AATTCTGCTGGTGGGGGAGGTGACTCTGCACAGAGCAAAAGCAAGTCTGCAGGAGCTGGG c.3300
N S A G G G G D S A Q S K S K S A G A G p.1100
. . . . . . g.80682
CAAGGCAGCAGTAACTCCGTTTCCGACACTGGTGCCCATGGTGTGCAGGGATCCTCAGCC c.3360
Q G S S N S V S D T G A H G V Q G S S A p.1120
. . . . . . g.80742
CGAACTCCATCTTCCCCTCACAAAAAATTCTCCCCATCTCATTCCTCTATGTCCCATTTG c.3420
R T P S S P H K K F S P S H S S M S H L p.1140
. . . . . . g.80802
GAGGCGGTAAGCCCATCAGATTCCAGAGGCACTTCTTCATCTCACTGCAGACCTCAAGAG c.3480
E A V S P S D S R G T S S S H C R P Q E p.1160
. | 21. . . . . g.81773
AATATCAGCAGTAGGTG | GATGGTTCCCACATCAGTAGAACGACTCCGAGAAGGAGGGAGC c.3540
N I S S R W | M V P T S V E R L R E G G S p.1180
. . . . . . g.81833
ATCCCCAAGGTCCTCCGAAGCAGCGTGAGGGTGGCCCAAAAGGGAGAGCCCTCTCCCACA c.3600
I P K V L R S S V R V A Q K G E P S P T p.1200
. . . | 22 . . . g.82378
TGGGAGAGTAACATCACAGAGAAAGACTCAG | ACCCTGCAGATGGAGAAGGCCCAGAGACA c.3660
W E S N I T E K D S D | P A D G E G P E T p.1220
. . . . . . g.82438
TTAAGCTCAGCACTCTCTAAAGGAGCAACAGTTTACAGCCCTTCCAGATACAGCTACCAG c.3720
L S S A L S K G A T V Y S P S R Y S Y Q p.1240
| 23 . . . . . . g.82824
| CTCCTGCAGTGTGATAGTCCTCGGACAGAATCACAAAGCCTCCTTCAGCAGAGTTCCTCC c.3780
| L L Q C D S P R T E S Q S L L Q Q S S S p.1260
. . . . . . g.82884
CCCTTCAGAGGACATCCTACACAGTCTCCAGGATACAGTTATCGAACTACTGCACTGAGA c.3840
P F R G H P T Q S P G Y S Y R T T A L R p.1280
. . . . . . g.82944
CCTGGAAACCCCCCCTCTCACGGTTCTTCAGAATCATCCCTCTCTTCCACGTCCTATTCC c.3900
P G N P P S H G S S E S S L S S T S Y S p.1300
. . . . . . g.83004
AGCCCCGCCCACCCTGTGTCCACAGACTCGTTGGCCCCATTTACGGGGACACCAGGGTAT c.3960
S P A H P V S T D S L A P F T G T P G Y p.1320
. . . . . . g.83064
TTTAGCAGCCAGCCACATTCTGGAAACAGCACTGGCAGCAATCTTCCAAGGAGGAGCTGC c.4020
F S S Q P H S G N S T G S N L P R R S C p.1340
. . . . . . g.83124
CCTTCTAGTGCTGCTAGCCCTACCCTGCAGGGACCCTCAGACTCGCCAACCTCAGATTCA c.4080
P S S A A S P T L Q G P S D S P T S D S p.1360
. . . . . . g.83184
GTTTCTCAGTCCAGCACAGGAACTCTGAGTTCCACCTCCTTTCCTCAGAACTCTAGGTCG c.4140
V S Q S S T G T L S S T S F P Q N S R S p.1380
. . . . . . g.83244
TCATTGCCATCAGACTTACGGACTATCAGTCTGCCCAGTGCTGGGCAGTCAGCTGTCTAC c.4200
S L P S D L R T I S L P S A G Q S A V Y p.1400
. . . . . . g.83304
CAGGCCTCCAGGGTATCTGCGGTTTCCAATTCACAGCACTACCCACACCGTGGGAGTGGG c.4260
Q A S R V S A V S N S Q H Y P H R G S G p.1420
. . . . . . g.83364
GGTGTGCACCAGTACCGACTCCAGCCACTGCAAGGGTCAGGAGTCAAGACTCAGACGGGA c.4320
G V H Q Y R L Q P L Q G S G V K T Q T G p.1440
g.83373
CTTTCCTAG c.4329
L S X p.1442
. . . . . . g.83433
ggcttctggatttgggcaaacagaactgaatgagcccatagctgcttccttccagctgcc c.*60
. . . . . . g.83493
tctggaacctaggccgagcatattgctgaggaacggggggtacaaggtgccagaggattg c.*120
. . . . . . g.83553
ggtctggtggacaagaaacaagacttgtggtcacaattggcctctggccttggagaaagc c.*180
. . . . . . g.83613
tgtaaatcttgtctgaagcagagactataaagaagtttctccctgctgtcaagggtacat c.*240
. . . . . . g.83673
tgttgacaagcaaatggtgtttcggttagtaacggttctaagtgcaatgagttgtgttga c.*300
. . . . . . g.83733
agcctccgtctcccatccttgcctgtagcccgtagtcacttgtgcagtgaggacatcttt c.*360
. . . . . . g.83793
ttaaatttaaaaaaaaaaaaaaaaaaagttttcaaaggaaaaaaagttaaaagagccaat c.*420
. . . . . . g.83853
ctcaaagccccaagccatctgagtactgttagggttttatgcacttaagaaaaaaggtag c.*480
. . . . . . g.83913
gtatgtaaatgttcatcctaagacaaccattccaaaagcaggtatctggccaatgtgtgt c.*540
. . . . . . g.83973
ccaccaagaatactgtttatctttgtcttaagatcaccaagaaataggcaaggatagtaa c.*600
. . . . . . g.84033
agcttggaacctgcaccaactggagggtgcctggctctttgaagaaaagctcatggtcag c.*660
. . . . . . g.84093
ctcttgattattcgggagcagattatttgagtagattgtctgagcctccaactgttacca c.*720
. . . . . . g.84153
tcctactcccccttcccaagctatttcacagctcagtaacccatgaagtaagtagacaag c.*780
. . . . . . g.84213
aaaaggaggaatgagacatgatataggccaattgcattgctacttaccagcttttggcaa c.*840
. . . . . . g.84273
taaatttcattaggaaggataccgagtggtttgggaatgcttcgaattttattttttcta c.*900
. . . . . . g.84333
ctcccaattaatcaggagttgatgatcccatgagcaggaccgcctccatgattggggagc c.*960
. . . . . . g.84393
atgcacttgtgactgcagggtaagagtgggaagataggtttgtggagtggcaccgacagg c.*1020
. . . . . . g.84453
actgtgattgtgtgtgggcctgccccacatttctctgggggatgcttatgtgagagtggg c.*1080
. . . . . . g.84513
cccagtgaaagagttaccaagccacccacacccctaacactgttctggatgagagatgag c.*1140
. . . . . . g.84573
agcagaccggcttctccccatcagtgcattgtgcctgttgtacacccctggaggagccct c.*1200
. . . . . . g.84633
ggagccagcccaggtggggtacacaatctttttaaattccatatggttgccagcttattt c.*1260
. . . . . . g.84693
ctttcacttgtttactgtaatatctggcgtgtttttatttatctaattttgtattcagtt c.*1320
. . . . . . g.84753
ataaccatggtaggggtagtgaatatatgacaggtgtaatccctggtgctgcagtggacc c.*1380
. . . . . . g.84813
ttcttttcttttggacaagataatactgtgagtttccctccttccttccctctaatttgt c.*1440
. . . . . . g.84873
tttccttttttccccagcctcttgcatccccttcttttctaccctgtcctacaactatca c.*1500
. . . . . . g.84933
tatgcacagtcttctctctttgtgtgtgactgttacaaaatttcacttttcaaaatcgaa c.*1560
. . . . . . g.84993
atcaggtgtttgctcaaatgaggggagattttttttttttttttttttttaaatgctgag c.*1620
. . . . . . g.85053
acctcagcagagtacttttctttttgttgtttcccccacaaacccatcagtctgggagag c.*1680
. . . . . . g.85113
cattgggagtggaaatcatgttgcctgggatgctggtttctttgtatattatataaaacg c.*1740
. . . . . . g.85173
tatgtaaatgtctctccatttgggctggggtttgcattctccccttggctatttaaccaa c.*1800
. . . . . . g.85233
ggggagaggccagcgggcaggcggccctcaccctgcctggcacgtgcagagaccccagcc c.*1860
. . . . . . g.85293
actctgtgtgggcagggtgctgtcaagaccagacctcttgggggggtaggggcggggggg c.*1920
. . . . . . g.85353
tggggggaactcttggaagggaagaagtatcacttctttctcaagtggagtgtttacacc c.*1980
. . . . . . g.85413
ttgctgtaacatttgaactttcacaagagatgtaataattttgataataaaattcttaac c.*2040
. . g.85436
cataataatcataaagttgagaa c.*2063
(downstream sequence)
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