(used for variant description)
(last modified June 4, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001178106.1 in the ZNF185 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021255.1, covering ZNF185 transcript NM_001178106.1.
(upstream sequence)
. . . . g.5048
cagaagccctgctgaatcaagtgagaggagagctgcggagcaatcacc c.-1
. . . | 02 . . . g.5294
ATGAGTATCTCAGCTCTTGGAGGCCGCACCAAAG | GGAAGCCTCTGCCACCAGGCGAGGAG c.60
M S I S A L G G R T K G | K P L P P G E E p.20
. . . . . . g.5354
GAGCGCAATAACGTTCTCAAGCAGATGAAAGTGCGAACCACGCTGAAGGGGGACAAGAGC c.120
E R N N V L K Q M K V R T T L K G D K S p.40
. . . | 03 . . g.5718
TGGATTACCAAGCAGGATGAATCGGAGGGTCGCACCAT | AGAGCTGCCCTCAGGCCGGAGT c.180
W I T K Q D E S E G R T I | E L P S G R S p.60
. . . . | 04 . . g.7705
CGCGCCACATCCTTTTCATCAGCTGGGGAGGTTCCGAAGCCTAG | GCCTCCGAGCACAAGG c.240
R A T S F S S A G E V P K P R | P P S T R p.80
. . | 05 . . . . g.7880
GCTCCCACTGGCTACATCATCCG | GGGAGTGTTCACCAAGCCCATAGACAGCTCTTCCCAG c.300
A P T G Y I I R | G V F T K P I D S S S Q p.100
. . . . | 06 . . g.8642
CCCCAGCAGCAGTTCCCCAAGGCCAACGGGACTCCAAAAAG | TGCTGCCAGTCTGGTGAGA c.360
P Q Q Q F P K A N G T P K S | A A S L V R p.120
. . . . . . g.8702
ACAGCTAACGCTGGTCCTCCCCGCCCCTCCTCCTCTGGCTACAAGATGACCACTGAGGAT c.420
T A N A G P P R P S S S G Y K M T T E D p.140
. | 07 . . . . . g.9590
TACAAGAAGCT | GGCACCCTACAATATCAGGCGCAGCTCTACATCAGGGGACACCGAGGAG c.480
Y K K L | A P Y N I R R S S T S G D T E E p.160
. . . . . | 08 . g.10896
GAGGAGGAGGAGGAGGTGGTGCCATTCTCCTCAGATGAACAGAAACGGAG | GTCAGAGGCT c.540
E E E E E V V P F S S D E Q K R R | S E A p.180
. . . . . . g.10956
GCAAGCGGTGTTCTGAGGAGGACAGCTCCCCGGGAGCACTCCTACGTCCTGTCAGCGGCC c.600
A S G V L R R T A P R E H S Y V L S A A p.200
. | 09 . . . . | 10 . g.12738
AAGAAGAGCACTGG | TCCTACCCAGGAGACACAGGCACCGTTTATCGCGAAGAG | GGTGGAG c.660
K K S T G | P T Q E T Q A P F I A K R | V E p.220
. . . . . . g.12798
GTGGTGGAAGAGGACGGGCCTTCTGAGAAGAGCCAGGACCCACCTGCTCTGGCAAGATCC c.720
V V E E D G P S E K S Q D P P A L A R S p.240
. | 11. . . . . g.13321
ACTCCTGGCTCAAACAG | TGCGGATGGAGGCAGGACCAAAGCGTCTCGGGCAATTTGGATC c.780
T P G S N S | A D G G R T K A S R A I W I p.260
. . . . | 12. . g.19146
GAGTGCCTGCCAAGTATGCCTAGCCCCGCTGGGAGCCAGGAGCTCAG | CTCAAGAGGTGAG c.840
E C L P S M P S P A G S Q E L S | S R G E p.280
. . . . . . g.19206
GAAATTGTCCGCCTGCAGATCCTGACACCCAGGGCAGGACTCCGCCTGGTGGCCCCAGAC c.900
E I V R L Q I L T P R A G L R L V A P D p.300
. | 13 . . . . . g.22276
GTGGAAGGCATGAG | GTCTTCCCCAGGCAACAAAGACAAGGAGGCCCCCTGCTCCAGAGAG c.960
V E G M R | S S P G N K D K E A P C S R E p.320
. . . . . | 14 g.23432
CTCCAGAGGGACTTGGCTGGTGAGGAGGCTTTCAGGGCCCCCAACACAGATGCTGCAAG | G c.1020
L Q R D L A G E E A F R A P N T D A A R | p.340
. . . . . . g.23492
TCAAGTGCACAGTTGAGTGATGGCAATGTGGGATCCGGAGCCACGGGCTCCCGGCCTGAA c.1080
S S A Q L S D G N V G S G A T G S R P E p.360
. . . | 15 . . g.26998
GGCTTGGCTGCAGTAGACATCGGCTCCGAGAGAGGAAG | GCTGTGTGCAGCTGCTAGCTTT c.1140
G L A A V D I G S E R G R | L C A A A S F p.380
. . . . . . g.27058
GCCTCTTTCCTGGAAGACCAGGATGGGCACAGTGCCAACTCTCAGTCCTGCAAGCCTAGA c.1200
A S F L E D Q D G H S A N S Q S C K P R p.400
. | 16 . . . . . g.28678
CCAGCAGCCATCAG | CTCCAGTGCCACTTCAGTCTCTGCTGTCCCTGCTGATAGGAAGAGC c.1260
P A A I S | S S A T S V S A V P A D R K S p.420
. . . . | 17 . . g.35841
AACAGCACAGCAGCCCAGGAGGATGCAAAGGCAGACCCAAAGGG | GGCCTTGGCTGATTAT c.1320
N S T A A Q E D A K A D P K G | A L A D Y p.440
. . . . . . g.35901
GAGGGGAAGGATGTGGCCACCAGGGTCGGAGAGGCCTGGCAGGAGAGGCCTGGAGCTCCA c.1380
E G K D V A T R V G E A W Q E R P G A P p.460
. . . . . . g.35961
AGAGGTGGCCAAGGAGACCCAGCTGTACCCGCTCAGCAACCTGCAGATCCCAGCACCCCA c.1440
R G G Q G D P A V P A Q Q P A D P S T P p.480
. . . . . . g.36021
GAGCGGCAGAGCAGCCCCAGCGGATCTGAGCAACTTGTCAGACGAGAGAGTTGTGGCAGC c.1500
E R Q S S P S G S E Q L V R R E S C G S p.500
| 18 . . . . . . g.50315
AG | CGTGTTGACTGATTTTGAGGGGAAGGATGTGGCCACCAAGGTCGGAGAGGCCTGGCAG c.1560
S | V L T D F E G K D V A T K V G E A W Q p.520
. . . . . . g.50375
GACAGGCCTGGAGCCCCAAGAGGTGGCCAAGGAGACCCAGCTGTACCCACTCAGCAACCT c.1620
D R P G A P R G G Q G D P A V P T Q Q P p.540
. . . . . . g.50435
GCAGATCCCAGTACCCCAGAACAGCAGAACAGCCCCAGCGGATCTGAGCAATTCGTCAGA c.1680
A D P S T P E Q Q N S P S G S E Q F V R p.560
. . | 19 . . . . g.54437
CGAGAGAGCTGCACCAGCAG | GGTGAGGAGCCCCTCGAGCTGCATGGTCACTGTTACTGTC c.1740
R E S C T S R | V R S P S S C M V T V T V p.580
. . . . . . g.54497
ACTGCCACATCTGAGCAGCCTCACATTTATATTCCAGCCCCCGCAAGTGAATTGGACTCC c.1800
T A T S E Q P H I Y I P A P A S E L D S p.600
. | 20 . . . . . g.56054
AGCTCTACCAC | CAAAGGGATTCTCTTCGTGAAGGAGTACGTGAATGCTAGTGAAGTGTCT c.1860
S S T T | K G I L F V K E Y V N A S E V S p.620
. . . | 21 . . . g.57753
TCTGGGAAGCCAGTATCTGCACGCTATAGCAA | CGTCAGCAGCATTGAGGACTCATTCGCC c.1920
S G K P V S A R Y S N | V S S I E D S F A p.640
. . . . | 22 . . g.59956
ATGGAGAAGAAGCCTCCATGTGGCAGCACTCCATACTCTGAGAG | GACAACTGGAGGGATC c.1980
M E K K P P C G S T P Y S E R | T T G G I p.660
. . . . . . g.60016
TGTACTTACTGCAACCGTGAGATCCGAGACTGTCCAAAGATTACCCTAGAACATCTTGGT c.2040
C T Y C N R E I R D C P K I T L E H L G p.680
. . | 23. . . . g.61034
ATCTGCTGCCATGAATATTGCTTTAAG | TGTGGGATTTGCAGTAAACCGATGGGCGATCTC c.2100
I C C H E Y C F K | C G I C S K P M G D L p.700
. . . . . . g.61094
CTGGATCAGATCTTCATTCACCGTGACACCATTCACTGTGGGAAATGCTATGAGAAGCTC c.2160
L D Q I F I H R D T I H C G K C Y E K L p.720
g.61100
TTCTAG | c.2167
F X p.721
| 24 . . . . . . g.61892
| cgaccccccaccgccaggctgatcagaagctgatgactcgtggacaaatttggctgtccc c.*60
. . . . . . g.61952
cagttttgccccaagttgctgtctccccttccctcacctcctccctccctgtttgatttc c.*120
. . . . . . g.62012
ttcatgcttttgcccttctcaagttgaagttgcatacatccaatatcgtatcttaatgat c.*180
. . . . . . g.62072
gctatgataattgcttgtgtgtgtagcttcttgtagcttagaaagcgctttatgcccatg c.*240
. . . . . . g.62132
atgtcatttcaggctcaaccaaagaggatcaaacaggaattccatcttggcttccctaag c.*300
. . . . . . g.62192
acagattggctttctaatgagtttaagtgggcagaagtgtagggttcagtgtgtcctgac c.*360
. . . . . . g.62252
tcccttgaggcttataatgggccaagttgaagactgttgatgatccctggtgggtaaatt c.*420
. . . . . . g.62312
gcagacatcaaatgctagggattggcataggctagtgtttagcttgtctatttgccatat c.*480
. . . . . . g.62372
ctattttttttaaatttccatacacttgtaaaagtagttagttgcttttgattgagttat c.*540
. . . . . . g.62432
atagcagtttttcatttggtcttccactcacctttcactatatttgagtgttcccttaca c.*600
. . . . . . g.62492
ggtatgttggcatgtgttggaaaatttacacaattaggtttaaattcagtaggatgtgat c.*660
. . . . . . g.62552
tttaggatgctactgatcaaagtgatatctgtgtctgttggaatcttgatagctgattaa c.*720
. . . . . . g.62612
tttgccctcaattctgctccctgaacttcacacataaatcttcccaagtgggttttaggg c.*780
. . . . . . g.62672
tgtatagatcccagcaggattaaggaggtggaaaagcagctaacatttcttgaggctcta c.*840
. . . . . . g.62732
ccacatagcaggcactgtcacagagtaatggcattaatccccataataatcctgtgaagg c.*900
. . . . . . g.62792
tgatattctcatcccatcttagacatgaggatattggaactcagagaggtggctattgca c.*960
. . . . . . g.62852
ttgcgcagaacgctacagagcccatgctcttcccagagcagcacccacaaaagcaagcat c.*1020
. . . . . . g.62912
tgattttgtgctcagtgtgtgccaagcactgtgcagagggtacacagttcctgccaggtt c.*1080
. . . . . . g.62972
aacaccctcccttcaggcctcccaaaggcataggcttgcaaagagcagaaggtgtgaaat c.*1140
. . . . . . g.63032
cacactcttcctctgggcatcctggatccctgaattatccccccccccatgaagtacttc c.*1200
. . . . . . g.63092
aagggccaagctgcccctttccctcctctccgcccatgaaaatgcctccaaactgagatg c.*1260
. . . . . . g.63152
ctttcagctgagaacagatttgactcacagacattaccaaagaggagcttgtgaatccag c.*1320
. . . . . . g.63212
gaaaagctccagggggctagctgatctgagcagagagctttcagtgacccattttcctgt c.*1380
. . . . . . g.63272
ctagactctgccttaagctagtggcaactgctggggccccaggtacttgggacatggaaa c.*1440
. . . . . . g.63332
ctcgttggatggctgggcagatgtaagcctgtccatgcagtcagccgatcctctgctcag c.*1500
. . . . . . g.63392
gttcagctggactctgccatctgtgggcccagcatcactctgtaagttccttgaaaggaa c.*1560
. . . . . . g.63452
gaacaaccttagagtatttctgatacaaaatgagggcctctgctcttgatttaattataa c.*1620
. . . . . . g.63512
aatgtctacgtctttctccagtttctgagccctatgcacattggcttgtgggcttgttct c.*1680
. . . . . . g.63572
tcctgccaaatgatcagagaggaacattccatttatttgtagtggatttcctctggaggg c.*1740
. . . . . . g.63632
catgtacccacactaaataccaactgctcttcctcagctgtagtccccaacatcagactt c.*1800
. . . . . . g.63692
ggcacgtggtggacactaacacacaggcactcaatgaatgagtgaaggaaataaaagtca c.*1860
. . . . . . g.63752
ccccgttggtgagaggtgctatccctgagtctcagtgcaggaccagtggatgaaaggcaa c.*1920
. . . . . . g.63812
ggtaaagaggcccaagataggctggcttcccccgttcaaggtatagtctgcctttaaggg c.*1980
. . . . . . g.63872
agttttagaaccaacatgcaagacattgaaagaaatcttgcaagagccattattgactta c.*2040
. . . . . . g.63932
gatccaaaacagcctctctcatgtctaaaaaggcacagaattttgcagatctgaggaaga c.*2100
. . . . . . g.63992
gggatgcattacctttttgcttcttttcaattgcttagtgtttctaatcatacttaatcc c.*2160
. . . . g.64040
acactaatgtgcgcaattataataaatggtaagatatcacatgtgtca c.*2208
(downstream sequence)
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