(used for variant description)
(last modified July 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_016213.4 in the TRIP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046848.1, covering TRIP4 transcript NM_016213.4.
(upstream sequence)
. . . . . . g.5060
ggaactagtccggtgcaggacgtggggcttttgcagctcagctggttccggctggggaag c.-1
. . . . . . g.5120
ATGGCGGTGGCTGGGGCGGTGTCCGGGGAGCCGCTGGTGCACTGGTGCACCCAGCAGTTG c.60
M A V A G A V S G E P L V H W C T Q Q L p.20
. . . . | 02 . . g.11161
CGGAAGACTTTCGGCCTGGATGTCAGCGAGGAGATCATTCA | GTACGTTTTGTCAATTGAG c.120
R K T F G L D V S E E I I Q | Y V L S I E p.40
. . . . . . g.11221
AGTGCTGAAGAGATACGAGAATATGTTACTGATCTCCTCCAGGGAAATGAAGGCAAAAAA c.180
S A E E I R E Y V T D L L Q G N E G K K p.60
. . . . . . g.11281
GGTCAATTCATAGAAGAACTTATAACCAAATGGCAAAAGAATGATCAGGAGTTGATTTCG c.240
G Q F I E E L I T K W Q K N D Q E L I S p.80
. . . | 03 . . . g.12623
GATCCTTTGCAGCAGTGCTTCAAAAAAGATG | AAATTTTAGATGGGCAGAAATCAGGCGAC c.300
D P L Q Q C F K K D E | I L D G Q K S G D p.100
. . . . . . g.12683
CATCTAAAGCGGGGTAGGAAGAAAGGGAGAAACAGACAGGAAGTTCCTGCATTTACTGAA c.360
H L K R G R K K G R N R Q E V P A F T E p.120
. . . . | 04 . . g.14817
CCTGACACGACTGCAGAGGTTAAAACACCTTTTGATTTGGCCAAG | GCACAAGAGAACAGC c.420
P D T T A E V K T P F D L A K | A Q E N S p.140
. . . . . . g.14877
AACTCCGTAAAGAAGAAGACAAAGTTTGTCAATTTATACACAAGAGAGGGACAGGACAGG c.480
N S V K K K T K F V N L Y T R E G Q D R p.160
. . . . . . g.14937
CTTGCAGTCCTGCTCCCTGGTCGTCACCCTTGTGATTGCCTGGGCCAGAAGCACAAGCTC c.540
L A V L L P G R H P C D C L G Q K H K L p.180
. . . . . . g.14997
ATCAATAACTGTCTGATCTGTGGGCGCATTGTCTGTGAACAAGAAGGCTCAGGCCCTTGC c.600
I N N C L I C G R I V C E Q E G S G P C p.200
. | 05 . . . . g.17981
TTATTCTGTGGCACTCTG | GTGTGTACTCATGAGGAACAAGATATTTTACAGCGTGACTCA c.660
L F C G T L | V C T H E E Q D I L Q R D S p.220
. . . | 06. . . g.23549
AACAAGAGCCAGAAACTGCTAAAGAAACTCATGTCAG | GAGTGGAGAATTCTGGAAAGGTG c.720
N K S Q K L L K K L M S G | V E N S G K V p.240
. . . . . . g.23609
GACATCTCTACCAAGGACCTTCTTCCTCATCAAGAATTGCGAATTAAGTCTGGTCTGGAG c.780
D I S T K D L L P H Q E L R I K S G L E p.260
. . . . | 07. . g.26822
AAGGCTATCAAGCATAAAGACAAACTGTTAGAGTTTGACAGAACTAG | TATTCGAAGGACC c.840
K A I K H K D K L L E F D R T S | I R R T p.280
. . . . . . g.26882
CAAGTCATTGATGATGAGTCAGATTACTTTGCCAGTGATTCTAACCAATGGTTGTCCAAA c.900
Q V I D D E S D Y F A S D S N Q W L S K p.300
. . . . . . g.26942
CTTGAGCGGGAAACCTTGCAGAAGCGAGAGGAGGAGCTGAGAGAACTTCGACACGCCTCT c.960
L E R E T L Q K R E E E L R E L R H A S p.320
. . . . . . g.27002
CGACTTTCTAAGAAGGTCACCATTGACTTTGCAGGAAGGAAGATCCTGGAAGAAGAAAAT c.1020
R L S K K V T I D F A G R K I L E E E N p.340
. . | 08 . . . . g.31318
TCACTAGCAGAGTATCATAGCAG | ACTAGATGAGACAATACAGGCCATTGCCAATGGAACC c.1080
S L A E Y H S R | L D E T I Q A I A N G T p.360
. . . . . . g.31378
TTGAACCAGCCACTGACCAAATTGGATAGATCTTCTGAAGAGCCTTTGGGAGTTCTGGTA c.1140
L N Q P L T K L D R S S E E P L G V L V p.380
. . . | 09 . . . g.35767
AATCCCAACATGTACCAGTCCCCTCCCCAG | TGGGTTGACCACACAGGTGCAGCCTCACAG c.1200
N P N M Y Q S P P Q | W V D H T G A A S Q p.400
. . . . . . g.35827
AAGAAGGCTTTCCGTTCTTCAGGATTTGGACTAGAGTTCAACTCATTTCAGCACCAGTTG c.1260
K K A F R S S G F G L E F N S F Q H Q L p.420
. . . . . . g.35887
CGAATCCAGGATCAAGAATTTCAGGAAGGCTTTGATGGTGGCTGGTGCCTCTCTGTACAT c.1320
R I Q D Q E F Q E G F D G G W C L S V H p.440
. . . | 10 . . g.41249
CAGCCCTGGGCTTCTCTGCTTGTCAGAGGGATTAAAAG | GGTGGAGGGCAGATCCTGGTAC c.1380
Q P W A S L L V R G I K R | V E G R S W Y p.460
. . . . . . g.41309
ACCCCCCACAGAGGACGACTTTGGATAGCAGCCACAGCTAAAAAACCCTCCCCTCAAGAA c.1440
T P H R G R L W I A A T A K K P S P Q E p.480
. . . . | 11 . . g.42753
GTCTCAGAACTCCAGGCTACATATCGTCTTCTTCGTGGGAAAG | ATGTGGAATTTCCTAAT c.1500
V S E L Q A T Y R L L R G K D | V E F P N p.500
. . . . . . g.42813
GACTATCCGTCAGGTTGTCTTCTGGGCTGTGTGGACCTAATTGACTGCTTGTCCCAGAAG c.1560
D Y P S G C L L G C V D L I D C L S Q K p.520
. | 12 . . . . . g.62247
CAATTTAAGGAGCAG | TTTCCAGACATCAGTCAAGAGTCTGATTCTCCATTTGTTTTCATC c.1620
Q F K E Q | F P D I S Q E S D S P F V F I p.540
. . . . . | 13 g.72195
TGCAAAAATCCTCAGGAAATGGTTGTGAAGTTTCCTATTAAAGGAAATCCAAAAATCT | GG c.1680
C K N P Q E M V V K F P I K G N P K I W | p.560
. . . . . . g.72255
AAATTGGATTCCAAGATCCATCAAGGAGCAAAGAAGGGGTTAATGAAGCAGAATAAAGCT c.1740
K L D S K I H Q G A K K G L M K Q N K A p.580
g.72261
GTCTGA c.1746
V X p.581
. . . . . . g.72321
cccaggagaaaaggaactatacagcatagtggagttttgtgtactaaaattgctatctac c.*60
. . . . . . g.72381
tggtcctttggaattgaagtagtagaaacctaaaggcttggcgtcaggcttgaatatctc c.*120
. . . . . . g.72441
agaacttaaactcttaccaaaatctgtatatttttcttaaggagtgggattcctacttta c.*180
. . . . . g.72500
tgtaatggggtcgaaatctttgaacacattatttataaaaacctgtttaaaaattctaa c.*239
(downstream sequence)
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