(used for variant description)
(last modified February 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_032588.3 in the TRIM63 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033268.1, covering TRIM63 transcript NM_032588.3.
(upstream sequence)
. . g.5020
agacagaattcgggcaccag c.-121
. . . . . . g.5080
gagaaggaagccaacaggatccgacccggtgttttgtgacaaaggcaagacccccaggtc c.-61
. . . . . . g.5140
tacttagagcaaagttagtagaggaggcagctaggcgtggctctcattccttcccacaga c.-1
. . . . . . g.5200
ATGGATTATAAGTCGAGCCTGATCCAGGATGGGAATCCCATGGAGAACTTGGAGAAGCAG c.60
M D Y K S S L I Q D G N P M E N L E K Q p.20
. . . . . . g.5260
CTGATCTGCCCTATCTGCCTGGAGATGTTTACCAAGCCAGTGGTCATCTTGCCGTGCCAG c.120
L I C P I C L E M F T K P V V I L P C Q p.40
. . . | 02 . . g.6215
CACAACCTGTGCCGGAAGTGTGCCAATGACATCTTCCAG | GCTGCAAATCCCTACTGGACC c.180
H N L C R K C A N D I F Q | A A N P Y W T p.60
. . . . . . g.6275
AGCCGGGGCAGCTCAGTGTCCATGTCTGGAGGCCGTTTCCGCTGCCCCACCTGCCGCCAC c.240
S R G S S V S M S G G R F R C P T C R H p.80
. . . . . . g.6335
GAGGTGATCATGGATCGTCACGGAGTGTACGGCCTGCAGAGGAACCTGCTGGTGGAGAAC c.300
E V I M D R H G V Y G L Q R N L L V E N p.100
. . . | 03 . . . g.11328
ATCATCGACATCTACAAACAGGAGTGCTCCAG | TCGGCCGCTGCAGAAGGGCAGTCACCCC c.360
I I D I Y K Q E C S S | R P L Q K G S H P p.120
. . . . . . g.11388
ATGTGCAAGGAGCACGAAGATGAGAAAATCAACATCTACTGTCTCACGTGTGAGGTGCCC c.420
M C K E H E D E K I N I Y C L T C E V P p.140
. . . . . . g.11448
ACCTGCTCCATGTGCAAGGTGTTTGGGATCCACAAGGCCTGCGAGGTGGCCCCATTGCAG c.480
T C S M C K V F G I H K A C E V A P L Q p.160
. . | 04 . . . . g.12312
AGTGTCTTCCAGGGACAAAAG | ACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGG c.540
S V F Q G Q K | T E L N N C I S M L V A G p.180
. . . . . | 05. g.14014
AATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAG | GAG c.600
N D R V Q T I I T Q L E D S R R V T K | E p.200
. . . . . . g.14074
AACAGTCACCAGGTAAAGGAAGAGCTGAGCCAGAAGTTTGACACGTTGTATGCCATCCTG c.660
N S H Q V K E E L S Q K F D T L Y A I L p.220
. . . . . . g.14134
GATGAGAAGAAAAGTGAGTTGCTGCAGCGGATCACGCAGGAGCAGGAGAAAAAGCTTAGC c.720
D E K K S E L L Q R I T Q E Q E K K L S p.240
. . . . . . g.14194
TTCATCGAGGCCCTCATCCAGCAGTACCAGGAGCAGCTGGACAAGTCCACAAAGCTGGTG c.780
F I E A L I Q Q Y Q E Q L D K S T K L V p.260
. . . . . | 06 . g.14993
GAAACTGCCATCCAGTCCCTGGACGAGCCTGGGGGAGCCACCTTCCTCTTG | ACTGCCAAG c.840
E T A I Q S L D E P G G A T F L L | T A K p.280
. | 07 . . . . . g.15353
CAACTCATCAAAAG | CATTGTGGAAGCTTCCAAGGGCTGCCAGCTGGGGAAGACAGAGCAG c.900
Q L I K S | I V E A S K G C Q L G K T E Q p.300
. . . . . . g.15413
GGCTTTGAGAACATGGACTTCTTTACTTTGGATTTAGAGCACATAGCAGACGCCCTGAGA c.960
G F E N M D F F T L D L E H I A D A L R p.320
. | 08 . . . . g.18711
GCCATTGACTTTGGGACAG | ATGAGGAAGAGGAAGAATTCATTGAAGAAGAAGATCAGGAA c.1020
A I D F G T D | E E E E E F I E E E D Q E p.340
. . . | 09 . g.20780
GAGGAAGAGTCCACAGAAGGGAAGGAAGAAG | GACACCAGTAA c.1062
E E E S T E G K E E G | H Q X p.353
. . . . . . g.20840
ggagctggatgaatgagaggcccccagatgcagagagactggagagggtggggaggggcc c.*60
. . . . . . g.20900
cagcggccttggtgacaggcccagggtgggaggggtcggggcccctggaggggcaatggg c.*120
. . . . . . g.20960
gaggtgatgtcttctctctgctcagagagcagggactagggtaggaccctcaccgctgcg c.*180
. . . . . . g.21020
tccagcagacactgaaccagaattggaaacgtgcttgaaacaatcacacaggacactttt c.*240
. . . . . . g.21080
ctacattggtgcaaaatggaatattttgtacatttttaaaatgtgatttttgtatatact c.*300
. . . . . . g.21140
tgtatatgtatgccaatttggtgctttttgtaaaggaacttttgtataataatgcctggt c.*360
. . . . . . g.21200
cgttgggtgacctgcgattgtcagaaagaggggaaggaagccaggttgatacagctgccc c.*420
. . . . . . g.21260
acttcctttcctgagcaggaggatggggtagcactcacagggacgatgtgctgtatttca c.*480
. . . . . . g.21320
gtgcctatcccagacatacggggtggtaactgagtttgtgttatatgttgttttaataaa c.*540
. . g.21349
tgcacaatgctctcttcctgttcttcaaa c.*569
(downstream sequence)
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