(used for variant description)
(last modified June 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_018474.4 in the KIZ gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033122.1, covering KIZ transcript NM_018474.4.
(upstream sequence)
. g.5013
ggcgtcttgcccc c.-121
. . . . . . g.5073
gcctcctgcaggcggcccggcgcggtgtttacccgcggtgcatggtggggcggtctcctt c.-61
. . . . . . g.5133
cggcaaccccggccgaacggccacccagaggctgtgctgagctggcgcagcggcagcagc c.-1
. . . . . . g.5193
ATGAGCCGGACCCTCGCATCGGCCGTGCCCCTGTCGAGTCCCGACTACTACGAGAGGCTG c.60
M S R T L A S A V P L S S P D Y Y E R L p.20
. . | 02 . . . g.11145
GGCCAACTCCAGCACGGGCTGCGGGACAG | TGAAAAGAAGAGATTGGACCTGGAAAAGAAA c.120
G Q L Q H G L R D S | E K K R L D L E K K p.40
. . . | 03 . . . g.15435
CTTTATGAATATAATCAGTCTGATACATGCAG | AGTTAAGCTGAAATATGTAAAACTAAAG c.180
L Y E Y N Q S D T C R | V K L K Y V K L K p.60
. . . . . . g.15495
AATTATCTGAAGGAAATATGTGAATCTGAAAAGAAGGCTCATACTCGAAACCAAGAATAT c.240
N Y L K E I C E S E K K A H T R N Q E Y p.80
. . . . . . g.15555
TTAAAGCGATTTGAGCGTGTCCAAGCTCATGTTGTACACTTCACCACAAATACAGAGAAG c.300
L K R F E R V Q A H V V H F T T N T E K p.100
. | 04 . . . . . g.24627
CTTCAAAAACTGAAG | CTCGAATATGAGACTCAAATTAAGAAGATGCTATGCTCAAAAGAT c.360
L Q K L K | L E Y E T Q I K K M L C S K D p.120
. . . . | 05 . . g.40903
AGCCTGGGACTAAAAGAGGAACTGACAGATGAAGACAGAGAAAAG | GTTGCAGTGCACGAG c.420
S L G L K E E L T D E D R E K | V A V H E p.140
. . . . . . g.40963
GGGATTAACTCAGGAACAGCCATGTCAAGAGGATTGTATCAACCAGCAACAATCTTTATG c.480
G I N S G T A M S R G L Y Q P A T I F M p.160
. . . . . . g.41023
GGCCGCCAAATGTCAGCCATCTTAAGCATGAGAGATTTCAGTACAGAGCACAAATCTCCC c.540
G R Q M S A I L S M R D F S T E H K S P p.180
. . . . . . g.41083
CAGCCCACAAAGAACTTTTCAATTCCTGACCCACATTCACACCGACAGACAGCCCAGAGC c.600
Q P T K N F S I P D P H S H R Q T A Q S p.200
. . . . . . g.41143
AGTAATGTGACAGACAGCTGTGTAGTACAAACTAGTAATGACACACAGTGCTTAAATAAG c.660
S N V T D S C V V Q T S N D T Q C L N K p.220
. . . . . . g.41203
TCTGACAACATAGATGGAAAGGCATCTCTTCAGATTGGTGAGAAAATGCCAGTCACAGCC c.720
S D N I D G K A S L Q I G E K M P V T A p.240
. . . . . . g.41263
AGTGTATTGTCTGAGGAGGAACAAACTCATTGCTTGGAGATAGGAAGTAACACACGTCAT c.780
S V L S E E E Q T H C L E I G S N T R H p.260
. . . . . . g.41323
GGCAAGAGTAATTTATCTGAAGGCAAAAAGTCTGCTGAACTCAATTCCCCGTTACGGGAA c.840
G K S N L S E G K K S A E L N S P L R E p.280
. . . . . . g.41383
AGATTAAGTCCAGAGAACAGAACCACTGATTTAAAGTGTGACAGTTCCAGCGGATCAGAG c.900
R L S P E N R T T D L K C D S S S G S E p.300
. . . . . . g.41443
GGAGAAATACTGACACGGGAACATATTGAAGTTGAGGAAAAAAGAGCCAGCCCGCCAGTC c.960
G E I L T R E H I E V E E K R A S P P V p.320
. . . . . . g.41503
TCTCCGATACCAGTTTCAGAATACTGTGAATCTGAAAATAAGTGGTCTCAAGAGAAGCAT c.1020
S P I P V S E Y C E S E N K W S Q E K H p.340
. . | 06 . . . . g.41905
TCTCCTTGGGAAGGTGTTTCAG | ATCATCTTGCTCACAGGGAACCAAAGTCACAAAAGCCC c.1080
S P W E G V S D | H L A H R E P K S Q K P p.360
. . . . . . g.41965
TTCAGAAAAATGCAGGAAGAGGAGGAGGAAAGTTGGAGCACCAGCAGTGACCTTACCATT c.1140
F R K M Q E E E E E S W S T S S D L T I p.380
. . . . . . g.42025
TCAATAAGTGAAGATGATCTGATTTTAGAGAGCCCAGAACCACAGCCAAATCCAGGTGGC c.1200
S I S E D D L I L E S P E P Q P N P G G p.400
. . . . . . g.42085
AAGATGGAGGGAGAAGATGGAATAGAGGCCTTAAAATTAATCCATGCTGAGCAAGAAAGA c.1260
K M E G E D G I E A L K L I H A E Q E R p.420
. . . . . . g.42145
GTTGCCCTATCCACTGAAAAAAATTGTATTTTGCAAACCCTAAGCTCTCCTGATTCAGAA c.1320
V A L S T E K N C I L Q T L S S P D S E p.440
. . . | 07 . . . g.84534
AAGGAATCCTCCACTAACGCACCAACAAGAGA | ACCTGGACAAACACCAGACTCAGACGTA c.1380
K E S S T N A P T R E | P G Q T P D S D V p.460
. . . . . . g.84594
CCGAGGGCACAGGTGGGTCAGCATGTTGCCACCTTGAAAGAACATGATAATTCTGTCAAA c.1440
P R A Q V G Q H V A T L K E H D N S V K p.480
| 08 . . . . . . g.93604
GAAGAG | GCAACAGCATTATTGAGAAAAGCCCTTACAGAAGAGTGTGGCCGTAGGTCAGCT c.1500
E E | A T A L L R K A L T E E C G R R S A p.500
. . . . . . g.93664
ATTCACAGTAGTGAATCATCTTGCAGCTTGCCATCTATTCTGAATGACAATAGTGGAATA c.1560
I H S S E S S C S L P S I L N D N S G I p.520
. . . . . | 09 . g.94606
AAGGAAGCCAAACCTGCTGTATGGCTCAACAGTGTTCCTACAAGGGAACAAG | AAGTTTCA c.1620
K E A K P A V W L N S V P T R E Q E | V S p.540
. . . . . | 10 g.108028
AGTGGCTGTGGAGACAAGAGCAAGAAAGAAAATGTGGCTGCAGATATCCCAATCACAG | AA c.1680
S G C G D K S K K E N V A A D I P I T E | p.560
. . . . . . g.108088
ACAGAAGCCTATCAGTTGCTGAAGAAGGCCACCCTTCAGGATAATACAAATCAAACTGAA c.1740
T E A Y Q L L K K A T L Q D N T N Q T E p.580
. . . . | 11 . . g.111766
AACAGGTTTCAAAAGACAGATGCTTCTGTGTCACACTTGTCAG | GTTTGAATATTGGCAGC c.1800
N R F Q K T D A S V S H L S G | L N I G S p.600
. . . . . . g.111826
GGTGCATTCGAGACAAAGACAGCTAACAAAATTGCTTCGGAAGCTAGTTTTTCATCTAGT c.1860
G A F E T K T A N K I A S E A S F S S S p.620
. . | 12 . . . . g.123300
GAAGGAAGTCCTTTGTCAAG | GCATGAAAACAAAAAGAAACCCGTGATCAATTTAAAATCT c.1920
E G S P L S R | H E N K K K P V I N L K S p.640
| 13 . . . . . . g.125550
AATG | CCCTCTGGGATGAGTCTGATGACAGTAACTCAGAAATTGAGGCTGCTTTACGCCCC c.1980
N A | L W D E S D D S N S E I E A A L R P p.660
. . . . g.125592
AGAAACCATAACACCGATGATTCTGATGATTTTTATGACTAA c.2022
R N H N T D D S D D F Y D X p.673
. . . . g.125638
cgtgctgtgacattggtttcaaataaagtctttaaacaaactaaaa c.*46
(downstream sequence)
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