(used for variant description)
(last modified March 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001003811.1 in the TEX11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012574.1, covering TEX11 transcript NM_001003811.1.
(upstream sequence)
. . . . g.5042
gtcctcgtgcgctgtggacggaggttgtggagagagcagggc c.-121
. . . | 02 . . . g.5945
ggcattggtggctgcggctgag | gcttgagccagagatttaaaaatggacaatgatgattt c.-61
. . | 03 . . . g.16171
tttttccatggactttaaag | atggagtctgtctctgttgtccaggctggagtgcagtggc c.-1
. . . . . . g.16231
ATGATCTCGGCTCACTGCAACCTCCGCCTCCTGTGTTCAAGCGATTCTTCTGCCTCAGCC c.60
M I S A H C N L R L L C S S D S S A S A p.20
. . | 04 . . . . g.33646
TCCCAAGTAGCTGGGACTACAG | AAGTTGTTGAAAACCTGGTTACAAATGATAATTCACCT c.120
S Q V A G T T E | V V E N L V T N D N S P p.40
. . . . . . g.33706
AACATACCAGAGGCAATTGATAGACTCTTCAGCGACATAGCAAATATCAACAGGGAGTCT c.180
N I P E A I D R L F S D I A N I N R E S p.60
. . | 05 . . . . g.40446
ATGGCTGAAATAACAGACATTCAG | ATTGAAGAAATGGCAGTAAACCTATGGAACTGGGCA c.240
M A E I T D I Q | I E E M A V N L W N W A p.80
. . . . | 06 . g.52792
CTTACCATAGGAGGAGGTTGGCTTGTAAATGAAGAGCAGAAAATTAGAT | TACATTATGTT c.300
L T I G G G W L V N E E Q K I R L | H Y V p.100
. . . . . . g.52852
GCTTGCAAGTTGCTGAGTATGTGTGAAGCCTCATTTGCCTCAGAACAAAGTATTCAACGA c.360
A C K L L S M C E A S F A S E Q S I Q R p.120
| 07 . . . . . g.60440
CTGATTATG | ATGAATATGAGAATAGGAAAAGAATGGTTGGATGCTGGAAATTTTCTAATC c.420
L I M | M N M R I G K E W L D A G N F L I p.140
. . . | 08 . . . g.60594
GCTGATGAATGTTTTCAAGCTGCTGTGGCC | AGTCTGGAGCAATTATACGTCAAATTAATT c.480
A D E C F Q A A V A | S L E Q L Y V K L I p.160
. . . . . . g.60654
CAAAGGAGCTCCCCTGAGGCTGACTTGACCATGGAGAAGATTACTGTTGAGAGTGACCAC c.540
Q R S S P E A D L T M E K I T V E S D H p.180
. . . | 09 . . . g.80154
TTCAGAGTGCTTTCTTACCAAGCAGAGTCA | GCAGTTGCTCAAGGGGATTTTCAAAGAGCA c.600
F R V L S Y Q A E S | A V A Q G D F Q R A p.200
. . . . . | 10 . g.106936
TCTATGTGTGTACTGCAATGTAAAGATATGTTGATGAGGCTCCCCCAGATG | ACTTCAAGT c.660
S M C V L Q C K D M L M R L P Q M | T S S p.220
. . . . . . g.106996
CTTCATCATCTCTGTTACAACTTTGGAGTAGAAACCCAGAAGAATAATAAATATGAAGAA c.720
L H H L C Y N F G V E T Q K N N K Y E E p.240
. | 11. . . . . g.169541
AGTTCTTTCTGGCTTAG | CCAAAGCTATGATATTGGGAAGATGGATAAGAAATCTACTGGG c.780
S S F W L S | Q S Y D I G K M D K K S T G p.260
. | 12 . . . . . g.172969
CCAGAAATGCTG | GCTAAAGTTCTACGGCTATTAGCCACGAATTATTTGGATTGGGATGAC c.840
P E M L | A K V L R L L A T N Y L D W D D p.280
. . . . | 13 . g.188386
ACCAAATATTATGATAAGGCTCTCAATGCTGTAAACCTAGCAAACAAG | GAACATTTAAGT c.900
T K Y Y D K A L N A V N L A N K | E H L S p.300
. . . . . . g.188446
TCTCCTGGGCTTTTCTTAAAAATGAAAATCCTCTTGAAAGGCGAAACATCTAATGAAGAA c.960
S P G L F L K M K I L L K G E T S N E E p.320
. | 14 . . . . . g.191071
CTCCTTGAAG | CTGTCATGGAAATACTACATCTTGACATGCCCTTAGACTTCTGTCTGAAC c.1020
L L E A | V M E I L H L D M P L D F C L N p.340
. . | 15 . . . g.230923
ATTGCTAAACTGCTGATGGATCATGAAAG | AGAATCTGTTGGGTTTCATTTCCTGACGATT c.1080
I A K L L M D H E R | E S V G F H F L T I p.360
. . . . . . g.230983
ATTCATGAACGTTTTAAGTCATCGGAAAATATTGGAAAAGTTCTGATACTCCATACTGAC c.1140
I H E R F K S S E N I G K V L I L H T D p.380
. . . . . . g.231043
ATGCTTTTACAAAGGAAGGAAGAACTTCTTGCCAAGGAGAAGATTGAAGAAATCTTTTTA c.1200
M L L Q R K E E L L A K E K I E E I F L p.400
| 16 . . . . . . g.234887
G | CTCACCAAACAGGAAGACAACTGACAGCAGAATCAATGAACTGGTTACACAACATTCTG c.1260
A | H Q T G R Q L T A E S M N W L H N I L p.420
. . | 17. . . . g.243236
TGGAGACAAGCTGCCAGTAGTTTTGAG | GTACAAAATTACACTGATGCCCTACAATGGTAC c.1320
W R Q A A S S F E | V Q N Y T D A L Q W Y p.440
. . . . . . g.243296
TATTATTCTCTGAGGTTTTATTCAACTGATGAAATGGATCTGGACTTCACCAAGCTGCAG c.1380
Y Y S L R F Y S T D E M D L D F T K L Q p.460
. . . . | 18 . . g.262180
AGGAACATGGCTTGCTGTTACCTGAATTTGCAACAACTTGATAAG | GCCAAAGAGGCAGTG c.1440
R N M A C C Y L N L Q Q L D K | A K E A V p.480
. . . . . . g.262240
GCAGAAGCTGAACGACATGACCCTAGGAACGTTTTCACTCAATTTTATATATTCAAGATT c.1500
A E A E R H D P R N V F T Q F Y I F K I p.500
. . | 19 . . . g.284014
GCAGTCATAGAGGGCAACTCTGAAAGAG | CTTTGCAGGCAATAATTACTTTAGAGAATATA c.1560
A V I E G N S E R A | L Q A I I T L E N I p.520
. . . . . . g.284074
TTAACAGATGAAGAGTCAGAAGATAATGATCTAGTTGCAGAGAGAGGTTCACCTACCATG c.1620
L T D E E S E D N D L V A E R G S P T M p.540
. . . | 20 . . . g.288820
CTTCTAAGTTTAGCTGCCCAGTTTGCTCTAGAG | AATGGACAACAAATTGTGGCAGAAAAA c.1680
L L S L A A Q F A L E | N G Q Q I V A E K p.560
. . . . . | 21 g.289712
GCTTTGGAATATTTAGCTCAACATTCAGAAGACCAGGAACAAGTTCTTACAGCTGTAAA | G c.1740
A L E Y L A Q H S E D Q E Q V L T A V K | p.580
. . . . . | 22 . g.303178
TGTTTGCTTCGTTTTCTTCTTCCAAAAATTGCTGAAATGCCGGAATCTGAAGATAA | GAAG c.1800
C L L R F L L P K I A E M P E S E D K | K p.600
. . . | 23. . . g.304563
AAAGAAATGGATCGACTTTTGACTTGCCTGAATAGAG | CCTTTGTGAAACTTTCTCAGCCT c.1860
K E M D R L L T C L N R A | F V K L S Q P p.620
. . . . . . g.304623
TTTGGTGAAGAAGCCTTAAGTTTGGAGTCAAGAGCTAATGAAGCTCAGTGGTTTCGAAAA c.1920
F G E E A L S L E S R A N E A Q W F R K p.640
| 24 . . . . . . g.306744
ACAG | CTTGGAACTTGGCTGTGCAATGTGACAAAGATCCAGTGATGATGAGAGAGTTTTTT c.1980
T A | W N L A V Q C D K D P V M M R E F F p.660
. | 25 . . . . . g.308245
ATACTTTCTTATAAG | ATGTCCCAGTTTTGTCCTTCTGATCAAGTAATTCTGATTGCACGG c.2040
I L S Y K | M S Q F C P S D Q V I L I A R p.680
. . . . . . g.308305
AAAACATGTTTACTTATGGCAGTTGCAGTTGATCTAGAGCAAGGGAGAAAAGCTTCAACA c.2100
K T C L L M A V A V D L E Q G R K A S T p.700
. | 26 . . . . . g.321942
GCTTTTGAACAG | ACCATGTTCCTGAGTCGTGCACTTGAGGAGATCCAGACATGCAATGAC c.2160
A F E Q | T M F L S R A L E E I Q T C N D p.720
. . | 27 . . . . g.358952
ATCCATAATTTCCTGAAACAAACAG | GGACCTTCTCAAATGATTCATGTGAGAAATTGCTT c.2220
I H N F L K Q T G | T F S N D S C E K L L p.740
. . . . . . g.359012
CTGCTGTACGAGTTTGAAGTTAGAGCCAAATTGAATGATCCATTACTGGAAAGCTTCCTG c.2280
L L Y E F E V R A K L N D P L L E S F L p.760
. . . . . | 28 . g.360308
GAATCAGTGTGGGAGTTGCCTCATTTAGAAACTAAAACTTTTGAAACAATTGCAA | TAATA c.2340
E S V W E L P H L E T K T F E T I A I | I p.780
. . . . . . g.360368
GCAATGGAAAAGCCTGCACACTATCCTTTGATTGCTCTCAAGGCCTTGAAAAAGGCTTTA c.2400
A M E K P A H Y P L I A L K A L K K A L p.800
. . . . | 29 . . g.361487
TTGCTCTACAAAAAGGAAGAACCAATTGATATATCACAATACAG | CAAATGTATGCACAAC c.2460
L L Y K K E E P I D I S Q Y S | K C M H N p.820
. . . . . . g.361547
TTGGTTAACCTCTCAGTGCCAGATGGGGCGTCGAATGTAGAGCTCTGTCCCCTGGAAGAA c.2520
L V N L S V P D G A S N V E L C P L E E p.840
. . . . | 30 . . g.383733
GTTTGGGGCTATTTTGAAGATGCTCTGAGCCACATTAGCCGCACT | AAAGACTACCCAGAA c.2580
V W G Y F E D A L S H I S R T | K D Y P E p.860
. . . . . . g.383793
ATGGAGATTCTCTGGCTGATGGTCAAGTCCTGGAATACCGGAGTACTTATGTTTAGCAGG c.2640
M E I L W L M V K S W N T G V L M F S R p.880
. . . . . . g.383853
AGCAAGTATGCATCTGCTGAAAAGTGGTGTGGCCTGGCCTTGCGTTTCCTTAACCACCTT c.2700
S K Y A S A E K W C G L A L R F L N H L p.900
. . . | 31 . . . g.384560
ACCTCCTTCAAGGAAAGCTATGAAACTCAG | ATGAATATGCTGTATAGTCAGCTTGTGGAA c.2760
T S F K E S Y E T Q | M N M L Y S Q L V E p.920
. . . . . . g.384620
GCATTGAGTAACAACAAGGGCCCAGTTTTTCATGAACATGGCTACTGGAGCAAGTCAGAT c.2820
A L S N N K G P V F H E H G Y W S K S D p.940
g.384623
TAG c.2823
X p.940
. . . . . . g.384683
gcaagctcatggccacatgaagaagatacattgtcccgagatgctgactgtttaaatttt c.*60
. . . . . . g.384743
tgccagagtttctcttgagcttttgtttctgtttgctcagaccctgttttcatgttgttg c.*120
. . . g.384778
aataaactttctaaaataaaagcatgctgaattta c.*155
(downstream sequence)
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