(used for variant description)
(last modified December 27, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_144631.5 in the ZNF513 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028219.1, covering ZNF513 transcript NM_144631.5.
(upstream sequence)
. . . g.5038
gtaggggggtagggggctccatgaatggaagcggcggc c.-181
. . . . . . g.5098
ggcggcgggagcggcctgagctgggcgccggggccagggccgggggctgcccagggcccg c.-121
. . . . . . g.5158
cgccgctgcatgggggcggcccgcgggccctgagaggaagggcagacaggcgggccgaga c.-61
. . . . . . g.5218
taggaggggcggggtcgggcggccgcaggccggaggcgcgtcgggctggagccggtcacg c.-1
. . . . . | 02 . g.5501
ATGCCCCGAAGGAAGCAAAGCCACCCGCAGCCCGTGAAATGCGAGGGGGTCAAAG | TGGAT c.60
M P R R K Q S H P Q P V K C E G V K V | D p.20
. . . . . . g.5561
ACTGAAGACTCCCTCGACGAAGGACCCGGGGCCCTGGTATTGGAGAGTGATTTGCTACTA c.120
T E D S L D E G P G A L V L E S D L L L p.40
. . . . . . g.5621
GGCCAGGATCTGGAGTTTGAGGAGGAAGAGGAAGAGGAGGAAGGCGACGGCAACAGTGAC c.180
G Q D L E F E E E E E E E E G D G N S D p.60
. . . | 03 . . . g.6719
CAGCTCATGGGCTTCGAGAGAGACTCGGAAG | GAGACTCTCTGGGGGCCAGGCCTGGGCTT c.240
Q L M G F E R D S E G | D S L G A R P G L p.80
. . . . . . g.6779
CCCTATGGGCTGAGCGACGATGAGTCTGGGGGCGGCCGGGCACTAAGTGCGGAGAGTGAA c.300
P Y G L S D D E S G G G R A L S A E S E p.100
. . . . . . g.6839
GTTGAGGAGCCAGCCAGGGGTCCAGGGGAGGCCAGGGGTGAGAGGCCAGGCCCAGCCTGC c.360
V E E P A R G P G E A R G E R P G P A C p.120
. . . . . . g.6899
CAGCTGTGTGGGGGGCCGACAGGTGAGGGGCCGTGTTGTGGGGCAGGAGGGCCGGGTGGG c.420
Q L C G G P T G E G P C C G A G G P G G p.140
. . . . . . g.6959
GGGCCCCTGCTGCCCCCACGGCTACTGTACTCATGCCGCCTCTGCACCTTCGTGTCCCAC c.480
G P L L P P R L L Y S C R L C T F V S H p.160
. . . . . . g.7019
TACTCGAGCCACCTGAAGCGGCACATGCAGACACACAGCGGAGAGAAGCCGTTCCGCTGT c.540
Y S S H L K R H M Q T H S G E K P F R C p.180
. . . . . . g.7079
GGCCGCTGCCCCTACGCCTCAGCCCAGCTCGTCAACCTGACACGACATACCCGCACCCAC c.600
G R C P Y A S A Q L V N L T R H T R T H p.200
. . . . . . g.7139
ACTGGCGAGAAGCCCTACCGCTGTCCCCACTGCCCCTTTGCCTGCAGCAGCCTGGGCAAC c.660
T G E K P Y R C P H C P F A C S S L G N p.220
. . . . . . g.7199
CTGAGGCGGCATCAGCGTACCCACGCAGGGCCCCCCACTCCTCCCTGCCCGACCTGTGGC c.720
L R R H Q R T H A G P P T P P C P T C G p.240
. . . . . . g.7259
TTCCGCTGCTGTACTCCACGACCAGCCCGGCCTCCCAGTCCCACAGAGCAGGAGGGGGCG c.780
F R C C T P R P A R P P S P T E Q E G A p.260
. | 04 . . . . g.7414
GTGCCCCGGCGACCTGAAG | ATGCTCTGCTCCTTCCAGATTTGAGCCTCCATGTGCCACCA c.840
V P R R P E D | A L L L P D L S L H V P P p.280
. . . . . . g.7474
GGTGGTGCCAGTTTCCTGCCAGACTGTGGGCAGCTGCGGGGTGAAGGGGAGGGCCTCTGC c.900
G G A S F L P D C G Q L R G E G E G L C p.300
. . . . . . g.7534
GGGACTGGATCAGAACCACTGCCAGAGCTGCTATTCCCTTGGACCTGCCGGGGCTGTGGA c.960
G T G S E P L P E L L F P W T C R G C G p.320
. . . . . . g.7594
CAAGAGCTGGAGGAGGGTGAGGGTAGTCGGCTGGGAGCTGCCATGTGTGGGCGCTGCATG c.1020
Q E L E E G E G S R L G A A M C G R C M p.340
. . . . . . g.7654
CGAGGAGAGGCTGGAGGGGGTGCCAGTGGGGGGCCCCAGGGCCCCAGTGACAAAGGCTTT c.1080
R G E A G G G A S G G P Q G P S D K G F p.360
. . . . . . g.7714
GCCTGTAGCCTCTGCCCCTTTGCCACTCACTATCCCAACCACCTGGCCCGGCACATGAAG c.1140
A C S L C P F A T H Y P N H L A R H M K p.380
. . . . . . g.7774
ACACACAGTGGTGAGAAGCCCTTCCGCTGCGCCCGCTGTCCTTATGCCTCTGCTCATCTG c.1200
T H S G E K P F R C A R C P Y A S A H L p.400
. . . . . . g.7834
GATAACCTGAAACGGCACCAGCGCGTCCATACAGGAGAGAAGCCCTACAAGTGCCCCCTC c.1260
D N L K R H Q R V H T G E K P Y K C P L p.420
. . . . . . g.7894
TGCCCTTATGCCTGTGGCAATCTGGCCAACCTCAAGCGTCATGGTCGCATCCACTCTGGT c.1320
C P Y A C G N L A N L K R H G R I H S G p.440
. . . . . . g.7954
GACAAACCTTTTCGGTGTAGCCTTTGCAACTACAGCTGCAACCAGAGCATGAACCTCAAA c.1380
D K P F R C S L C N Y S C N Q S M N L K p.460
. . . . . . g.8014
CGTCACATGCTGCGGCACACAGGCGAGAAGCCCTTCCGCTGTGCCACCTGCGCCTATACC c.1440
R H M L R H T G E K P F R C A T C A Y T p.480
. . . . . . g.8074
ACGGGCCACTGGGACAACTACAAGCGCCACCAGAAGGTGCATGGCCACGGTGGGGCAGGA c.1500
T G H W D N Y K R H Q K V H G H G G A G p.500
. . . . . . g.8134
GGGCCTGGTCTCTCTGCCTCTGAGGGCTGGGCCCCACCTCATAGCCCACCCTCTGTTTTG c.1560
G P G L S A S E G W A P P H S P P S V L p.520
. . . . . . g.8194
AGCTCTCGGGGCCCACCAGCCCTGGGGACTGCTGGCAGCCGGGCTGTCCACACAGACTCA c.1620
S S R G P P A L G T A G S R A V H T D S p.540
g.8200
TCCTGA c.1626
S X p.541
. . . . . . g.8260
actaggtccttcttccccatgttttatacagacggaccagaagccacctttttctccccc c.*60
. . . . . . g.8320
gctggccaggggctccacacagactaacgtaggcactataaggaccagcccaaccccatg c.*120
. . . . . . g.8380
ggcgggggggcccatatggaccaggggaccttgccttgactgaggcacttcacgagctca c.*180
. . . . . . g.8440
gtgagaagggccctgtattcacctccactgcccccaggggctgtggacaaaccggctggg c.*240
. . . . . . g.8500
ggactgcccagcctcccacctgtttatttaacttatttcagtgctttataataaaggaaa c.*300
. g.8514
cactaacaaagcca c.*314
(downstream sequence)
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