(used for variant description)
(last modified May 8, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001034194.1 in the EXOSC9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029848.1, covering EXOSC9 transcript NM_001034194.1.
(upstream sequence)
. . . . g.5048
gatgacgtaattttcctgcgcctcggggcgagcagcggcgcgcaagga c.-61
. . . . . . g.5108
aagatcgggttccgtttttcccgcggattctggtgcctgtggggccggtgacccaacacc c.-1
. . . . . . g.5168
ATGAAGGAAACGCCACTCTCAAACTGCGAACGCCGCTTCCTACTCCGTGCCATCGAAGAG c.60
M K E T P L S N C E R R F L L R A I E E p.20
| 02 . . . . . . g.5564
AAGAAG | CGGCTGGATGGCAGACAAACCTATGATTATAGGAACATCAGGATCTCATTTGGA c.120
K K | R L D G R Q T Y D Y R N I R I S F G p.40
. . . . | 03 . . g.6376
ACAGATTACGGATGCTGCATTGTGGAACTTGGAAAAACAAG | AGTTCTTGGACAGGTTTCC c.180
T D Y G C C I V E L G K T R | V L G Q V S p.60
. . . . . . g.6436
TGTGAACTTGTGTCTCCAAAACTCAATCGGGCAACAGAAGGTATTCTTTTTTTTAACCTT c.240
C E L V S P K L N R A T E G I L F F N L p.80
. . . . | 04 . . g.6617
GAACTCTCTCAGATGGCCGCTCCAGCTTTCGAACCTGGCAG | GCAGTCAGATCTCTTGGTG c.300
E L S Q M A A P A F E P G R | Q S D L L V p.100
. . . . . . g.6677
AAGTTGAATCGACTCATGGAAAGATGTCTAAGAAATTCGAAGTGTATAGACACTGAGTCT c.360
K L N R L M E R C L R N S K C I D T E S p.120
. . | 05 . . . . g.8341
CTCTGTGTTGTTGCTGGTGAAAAG | GTTTGGCAAATACGTGTAGACCTACATTTATTAAAT c.420
L C V V A G E K | V W Q I R V D L H L L N p.140
. . . . . . g.8401
CATGATGGAAATATTATTGATGCTGCCAGCATTGCTGCAATCGTGGCCTTATGTCATTTC c.480
H D G N I I D A A S I A A I V A L C H F p.160
. . . . | 06 . . g.11241
CGAAGACCTGATGTCTCTGTCCAAGGAGATGAAGTAACACTG | TATACACCTGAAGAGCGT c.540
R R P D V S V Q G D E V T L | Y T P E E R p.180
. . . . . . g.11301
GATCCTGTACCATTAAGTATCCACCACATGCCCATTTGTGTCAGTTTTGCCTTTTTCCAG c.600
D P V P L S I H H M P I C V S F A F F Q p.200
| 07 . . . . . . g.13705
CAAGG | AACATATTTATTGGTGGATCCCAATGAACGAGAAGAACGTGTGATGGATGGCTTG c.660
Q G | T Y L L V D P N E R E E R V M D G L p.220
. . . . . . g.13765
CTGGTGATTGCCATGAACAAACATCGAGAGATTTGTACTATCCAGTCCAGTGGTGGGATA c.720
L V I A M N K H R E I C T I Q S S G G I p.240
. | 08 . . . . g.15308
ATGCTACTAAAAGATCAA | GTTCTGAGATGCAGTAAAATCGCTGGTGTGAAAGTAGCAGAA c.780
M L L K D Q | V L R C S K I A G V K V A E p.260
. . . . | 09. . g.16930
ATTACAGAGCTAATATTGAAAGCTTTGGAGAATGACCAAAAAGTAAG | GAAAGAAGGTGGA c.840
I T E L I L K A L E N D Q K V R | K E G G p.280
. . . . . . g.16990
AAGTTTGGTTTTGCAGAGTCTATAGCAAATCAAAGGATCACAGCATTTAAAATGGAAAAG c.900
K F G F A E S I A N Q R I T A F K M E K p.300
. . . . . . g.17050
GCCCCTATTGATACCTCGGATGTAGAAGAAAAAGCAGAAGAAATCATTGCTGAAGCAGAA c.960
A P I D T S D V E E K A E E I I A E A E p.320
. | 10 . . . . . g.17595
CCTCCTTCAGAAGT | TGTTTCTACACCTGTGCTATGGACTCCTGGAACTGCCCAAATTGGA c.1020
P P S E V | V S T P V L W T P G T A Q I G p.340
. . . . . . g.17655
GAGGGAGTAGAAAACTCCTGGGGTGATCTTGAAGACTCTGAGAAGGAAGATGATGAAGGC c.1080
E G V E N S W G D L E D S E K E D D E G p.360
. . . . . . g.17715
GGTGGTGATCAAGCTATCATTCTTGATGGTATAAAAATGGACACTGGAGTAGAAGTCTCT c.1140
G G D Q A I I L D G I K M D T G V E V S p.380
. | 11 . . . . . g.19871
GATATTGGAAGCCAAG | AGCTGGGGTTTCACCATGTTGGCCAGACTGGACTCGAGTTCCTG c.1200
D I G S Q E | L G F H H V G Q T G L E F L p.400
| 12. . . . . . g.20105
ACCTCAG | ATGCTCCCATAATACTCTCAGATAGTGAAGAAGAAGAAATGATCATTTTGGAA c.1260
T S D | A P I I L S D S E E E E M I I L E p.420
. . | 13 . . . . g.20489
CCAGACAAGAATCCAAAGAAAATAAG | AACACAGACCACCAGTGCAAAACAAGAAAAAGCA c.1320
P D K N P K K I R | T Q T T S A K Q E K A p.440
. . . . . g.20540
CCAAGTAAAAAGCCAGTGAAAAGAAGAAAAAAGAAGAGAGCTGCCAATTAA c.1371
P S K K P V K R R K K K R A A N X p.456
. . . . . . g.20600
agctaacagttgtatatctgtatatataactattaaaagggatatttattccattctgag c.*60
. . . . . . g.20660
aaccctgggtattttttattcacaaatccattataaaatctagcaggattttaaaaatag c.*120
. . . . g.20705
ttttttgtttttaatgtgctttaaaataataaaccttctggagca c.*165
(downstream sequence)
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