(used for variant description)
(last modified May 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016169.3 in the SUFU gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021338.1, covering SUFU transcript NM_016169.3.
(upstream sequence)
. g.5011
accctctggca c.-181
. . . . . . g.5071
gactcggcggcggcgacagcctgggcggacagtgcgccgtgcgcaggcgcggagctagac c.-121
. . . . . . g.5131
ctcgctgcagcccccatcgcctcggggagtctcacccaccgagtccgcccgctggcccgt c.-61
. . . . . . g.5191
cagtgctctccccgtcgtttgccctctccagttcccccagtgcctgccctacgcaccccg c.-1
. . . . . . g.5251
ATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCG c.60
M A E L R P S G A P G P T A P P A P G P p.20
. . . . . . g.5311
ACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAG c.120
T A P P A F A S L F P P G L H A I Y G E p.40
. . . . . . g.5371
TGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTAC c.180
C R R L Y P D Q P N P L Q V T A I V K Y p.60
| 02 . . . . . . g.10265
TG | GTTGGGTGGCCCAGACCCCTTGGACTATGTTAGCATGTACAGGAATGTGGGGAGCCCT c.240
W | L G G P D P L D Y V S M Y R N V G S P p.80
. . . . . . g.10325
TCTGCTAACATCCCCGAGCACTGGCACTACATCAGCTTCGGCCTGAGTGATCTCTATGGT c.300
S A N I P E H W H Y I S F G L S D L Y G p.100
. | 03. . . . . g.51051
GACAACAGAGTCCATGA | GTTTACAGGAACAGATGGACCTAGTGGTTTTGGCTTTGAGTTG c.360
D N R V H E | F T G T D G P S G F G F E L p.120
. . . . . . g.51111
ACCTTTCGTCTGAAGAGAGAAACTGGGGAGTCTGCCCCACCAACATGGCCCGCAGAGTTA c.420
T F R L K R E T G E S A P P T W P A E L p.140
. . . | 04 . . . g.93646
ATGCAGGGCTTGGCACGATACGTGTTCCAGTCAG | AGAACACCTTCTGCAGTGGGGACCAT c.480
M Q G L A R Y V F Q S E | N T F C S G D H p.160
. . . . . . g.93706
GTGTCCTGGCACAGCCCTTTGGATAACAGTGAGTCAAGAATTCAGCACATGCTGCTGACA c.540
V S W H S P L D N S E S R I Q H M L L T p.180
. . . . . | 05. g.94677
GAGGACCCACAGATGCAGCCCGTGCAGACACCCTTTGGGGTAGTTACCTTCCTCCAG | ATC c.600
E D P Q M Q P V Q T P F G V V T F L Q | I p.200
. . . . . . g.94737
GTTGGTGTCTGCACTGAAGAGCTACACTCAGCCCAGCAGTGGAACGGGCAGGGCATCCTG c.660
V G V C T E E L H S A Q Q W N G Q G I L p.220
. . | 06 . . . . g.95068
GAGCTGCTGCGGACAGTGCCTAT | TGCTGGCGGCCCCTGGCTGATAACTGACATGCGGAGG c.720
E L L R T V P I | A G G P W L I T D M R R p.240
. . . | 07 . . . g.98202
GGAGAGACCATATTTGAGATCGATCCACACCTGCAA | GAGAGAGTTGACAAAGGCATCGAG c.780
G E T I F E I D P H L Q | E R V D K G I E p.260
. . . . . . g.98262
ACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGG c.840
T D G S N L S G V S A K C A W D D L S R p.280
. . . . . . g.98322
CCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTC c.900
P P E D D E D S R S I C I G T Q P R R L p.300
. | 08 . . . . . g.100521
TCTGGCAAAG | ACACAGAGCAGATCCGGGAGACCCTGAGGAGAGGACTCGAGATCAACAGC c.960
S G K D | T E Q I R E T L R R G L E I N S p.320
. . . . . . g.100581
AAACCTGTCCTTCCACCAATCAACCCTCAGCGGCAGAATGGCCTCGCCCACGACCGGGCC c.1020
K P V L P P I N P Q R Q N G L A H D R A p.340
| 09 . . . . . . g.116364
CC | GAGCCGCAAAGACAGCCTGGAAAGTGACAGCTCCACGGCCATCATTCCCCATGAGCTG c.1080
P | S R K D S L E S D S S T A I I P H E L p.360
. . . . . . g.116424
ATTCGCACGCGGCAGCTTGAGAGCGTACATCTGAAATTCAACCAGGAGTCCGGAGCCCTC c.1140
I R T R Q L E S V H L K F N Q E S G A L p.380
. | 10. . . . . g.118371
ATTCCTCTCTGCCTAAG | GGGCAGGCTCCTGCATGGACGGCACTTTACATATAAAAGTATC c.1200
I P L C L R | G R L L H G R H F T Y K S I p.400
. . . . . . g.118431
ACAGGTGACATGGCCATCACGTTTGTCTCCACGGGAGTGGAAGGCGCCTTTGCCACTGAG c.1260
T G D M A I T F V S T G V E G A F A T E p.420
. . . | 11 . . . g.128237
GAGCATCCTTACGCGGCTCATGGACCCTGGTTACAA | ATTCTGTTGACCGAAGAGTTTGTA c.1320
E H P Y A A H G P W L Q | I L L T E E F V p.440
. . . . | 12 . . g.131119
GAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAA | TTCAAACTTCCCAAA c.1380
E K M L E D L E D L T S P E E | F K L P K p.460
. . . . . . g.131179
GAGTACAGCTGGCCTGAAAAGAAGCTGAAGGTCTCCATCCTGCCTGACGTGGTGTTCGAC c.1440
E Y S W P E K K L K V S I L P D V V F D p.480
. g.131194
AGTCCGCTACACTAG c.1455
S P L H X p.484
. . . . . . g.131254
cctgggctgggccctgcaggggccagcagggagcccagctgctccccagtgacttccagt c.*60
. . . . . . g.131314
gtaacagttgtgtcaacgagatctccacaaataaaaggacaagtgtgaggaagactgcgc c.*120
. . . . . . g.131374
agtgccaccccgcagcccagtggggtgccatgcacaggccacaggccctccacctcacct c.*180
. . . . . . g.131434
ccagctcaggggccgcaccccgccgctggctaagccttgtgacccatcaggccagtgagt c.*240
. . . . . . g.131494
gggcaaatgcggaccctccctgcctgcagcctgcacagattctggtttgaggtttgactc c.*300
. . . . . . g.131554
tggaccctggctgtgcccctaggtggagacagccctctttctcacctaccccctgccgca c.*360
. . . . . . g.131614
cagcccagcaggagggaggcggacagccagatgcagagcgagtggatgcacttcccagct c.*420
. . . . . . g.131674
catctctggaagcctttgctactcaagctcctctggccgcggaacaattcctctgatcat c.*480
. . . . . . g.131734
gtttggttttcttcttccttattttattttgtagaaaccgggtggtattttattgctctg c.*540
. . . . . . g.131794
caaagatgtccagaagccatgtatataatgttttttaaacagaacttcattccccgttga c.*600
. . . . . . g.131854
actttcgcattctctgacagaggcctagggctgtatctctccctgggctgccaccagaga c.*660
. . . . . . g.131914
aggtgcttggtgttcgcctgccagcccagagccctggaggagccggctgcacagagaggc c.*720
. . . . . . g.131974
ttttcttcccagctgggcctggtggagcccggggcagggggagagtagagacactccctt c.*780
. . . . . . g.132034
gtgcagctttgagcctagtttagctggggccagggaggggtgctactgttttccaagtga c.*840
. . . . . . g.132094
atgggtctcaaagacttggtgaccccagcctcatcttctaggccttttccacccaaccag c.*900
. . . . . . g.132154
gcctacctgggagagggtgaggttcagcacatcacacaccatccccactgtcattcaggg c.*960
. . . . . . g.132214
cctgggtctccagctctgtaaccagtcctgtcccatttcctcagtccctgggcctcccag c.*1020
. . . . . . g.132274
ccttcaggctgtagggctgccttactaaaattgaaaaatccacctcttaacatctctttc c.*1080
. . . . . . g.132334
actttggttttgctaacactgctctctgctgccctcccatcctccctgtatccattcatg c.*1140
. . . . . . g.132394
ccctatctttcattctccactcctaatccctctcctttctggcatcctggcctctcgtgg c.*1200
. . . . . . g.132454
tcctcagcccctcacccccagtactgcagatctcacagtttgccttccagaagccagcct c.*1260
. . . . . . g.132514
atctctagcccatggttttggagttcctctcgggttatctcccacgcctgacctggaacc c.*1320
. . . . . . g.132574
agcaagcccctttcctgccttcttacccccaactctagggatgggactgttacaatactt c.*1380
. . . . . . g.132634
caagatcactctttacacctcttcaaagcaaagtcatgacaatgcagggctcctcattgc c.*1440
. . . . . . g.132694
tcccatctgcctctgctgcacacacaggcaccagcagggatgccacaggagtgcccacag c.*1500
. . . . . . g.132754
ggtgcaggactccactgatgagagatccagccaaagagctgcccccaggggtatgagggc c.*1560
. . . . . . g.132814
accagctgggttctccagggagcaggagttggacctccatggagccactaggcctggcct c.*1620
. . . . . . g.132874
cctctacacatccccagggctatctggttaattccatcaagctcagagttaaaaggcata c.*1680
. . . . . . g.132934
tcagcctggagtatttgggagagactggctgcagatccccgccagccaagatgcaagcca c.*1740
. . . . . . g.132994
ctcgggacctgatgtcggcagctgtgcctctactgccctgaggacttaccagagggagcc c.*1800
. . . . . . g.133054
ctactggccttcccccaccacagcagccctgcctgtgaagctcttgtttctgacatttca c.*1860
. . . . . . g.133114
caggcagagaggtgccatcagttcgcctccattccttgccaccatgaccagcctctccct c.*1920
. . . . . . g.133174
gaactctctcttgctcgggacctgcctgagggctccctgctgcagttcgccgtacttcca c.*1980
. . . . . . g.133234
tctgctgggtgcctccatcgttggttgggtggggatggggcattttctgagctaagcttt c.*2040
. . . . . . g.133294
gtcattagtttgtgaagcacctggtcagcaacctgccccagacctggagggtctttgtgg c.*2100
. . . . . . g.133354
actgaaggtagacaccagccagcatggtggccctgttctgggggagcagggtaaggcagg c.*2160
. . . . . . g.133414
aggaagtgggtgagctccgagatgatgagcacatgaagcctgtggccccttcgtacctgc c.*2220
. . . . . . g.133474
aatatgtcaggagcctcacgctcacccaagatcctgcaggggccaggctccatctcactg c.*2280
. . . . . . g.133534
gctctgagggcaggacagggtatcacacatttctcaccaggcctcctttcctatgggcat c.*2340
. . . . . . g.133594
tggtgcctcccagaggtttcttgggctgctggctggtgagagaggacccttaaagaagat c.*2400
. . . . . . g.133654
caagccaagctgaccttggaccctgtccagcacagcttctggcacaggatgcttggtgaa c.*2460
. . . . . . g.133714
tgtaccctttctttccctccctgcagctctgagggagcccctgaccttgtagtgggtgga c.*2520
. . . . . . g.133774
ggaggtaaggggcctccctccctaaatctgcctcttctgcaagctacttggagacttgcc c.*2580
. . . . . . g.133834
tagttgtacccacccctccaggtccctggtgctagagcttctgagaagggcctttccctt c.*2640
. . . . . . g.133894
tcctctttgcctgctatataaggcaggctcctgtggctctgctggctcagtgtgggctgc c.*2700
. . . . . . g.133954
aggaggactgcagactcagctgcaattctgaggggggtttgggaggcttgtgcgaggtct c.*2760
. . . . . . g.134014
caggcctgtgtggggagctggtgcctcttcctgcccgtatctttctcttccaagggcagt c.*2820
. . . . . . g.134074
gctccaaggcagggactggagaagccaaggggagagtctaaaagggctagagcattttta c.*2880
. . . . . . g.134134
aaaatagacacagggtcttgggactggggtttcggattgagttgcaagcagggagaaaac c.*2940
. . . . . . g.134194
ctgaaggtcggtgcccctatggggctgaccagtagagaatttcctttactgtatttttgt c.*3000
. . . . . . g.134254
gtctggtcttccctttctggcttctaggacatccatgccaggtgaggtgcctgggtccct c.*3060
. . . . . . g.134314
gttacaagtcaggagccctgtagggagacccctccttttgtacaagtacctgaatgctgc c.*3120
. . . . . . g.134374
gacaagcagatttttgtaaaattttatattagtttttaatgtcagtggcgactcggttcc c.*3180
. . . . . . g.134434
tggggctgcagccagcctgggacttttgtaagaatttttgggtgactcacttagatgtcg c.*3240
. . . . . . g.134494
tttccttcttgccccctcttcctctctgtaatctaagtgcattaaacatctttgcagaag c.*3300
g.134496
tg c.*3302
(downstream sequence)
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