(used for variant description)
(last modified May 4, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_020863.3 in the ZFAT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016356.1, covering ZFAT transcript NM_020863.3.
(upstream sequence)
g.5006
gaggag c.-181
. . . . . . g.5066
ggcgaagactccatccgccatgttggatgccgcagattcgccataacctcgccggctctt c.-121
. . . . . . g.5126
ttcttaaaaaaataaaaataaaaagcgaagcgtcagcagggcgccccgccccctcggtcg c.-61
. . . . . . g.5186
gcacgggagggggcccggaagagcccgaggcttttttttcctccgcggtggggcgttgcc c.-1
. | 02 . . . . g.60353
ATGGAGACGCGGGCGGCAG | AAAACACGGCCATCTTTATGTGTAAATGTTGTAACCTCTTC c.60
M E T R A A E | N T A I F M C K C C N L F p.20
. . . . . . g.60413
TCACCAAATCAGTCGGAACTCCTCTCCCACGTTTCAGAGAAGCACATGGAAGAAGGGGTT c.120
S P N Q S E L L S H V S E K H M E E G V p.40
. . . . . . g.60473
AATGTTGATGAGATTATTATTCCCCTTAGGCCTCTGAGTACACCTGAACCCCCCAACTCA c.180
N V D E I I I P L R P L S T P E P P N S p.60
. | 03 . . . . . g.80381
AGCAAAACCGGAGATG | AGTTTTTGGTCATGAAGAGGAAGAGAGGCAGGCCTAAGGGGTCC c.240
S K T G D E | F L V M K R K R G R P K G S p.80
. . . . . . g.80441
ACGAAGAAGTCCAGCACAGAAGAGGAGCTGGCAGAAAACATCGTGAGTCCGACTGAGGAC c.300
T K K S S T E E E L A E N I V S P T E D p.100
. . . . . . g.80501
AGCCCGCTGGCTCCGGAGGAAGGGAACAGCCTGCCTCCAAGCAGCTTGGAGTGTAGCAAG c.360
S P L A P E E G N S L P P S S L E C S K p.120
. . . . . . g.80561
TGCTGTCGGAAGTTCTCCAACACGCGCCAGCTGCGGAAGCACATCTGCATTATCGTGCTG c.420
C C R K F S N T R Q L R K H I C I I V L p.140
. . | 04 . . . g.107426
AATTTGGGTGAGGAGGAAGGAGAAGCAG | GTAACGAGTCTGACCTTGAACTAGAAAAGAAG c.480
N L G E E E G E A G | N E S D L E L E K K p.160
. . . . . . g.107486
TGTAAGGAAGATGATCGGGAAAAAGCCTCGAAAAGACCACGGTCACAGAAAACAGAGAAA c.540
C K E D D R E K A S K R P R S Q K T E K p.180
. . . . . . g.107546
GTCCAGAAGATCTCAGGAAAGGAGGCCAGACAGCTTTCTGGGGCGAAGAAACCCATCATA c.600
V Q K I S G K E A R Q L S G A K K P I I p.200
. . . | 05 . . . g.109196
AGTGTGGTTTTAACTGCACACGAAGCAATTCCAG | GTGCTACCAAGATTGTGCCAGTGGAG c.660
S V V L T A H E A I P G | A T K I V P V E p.220
. . . . . . g.109256
GCTGGGCCCCCTGAAACAGGAGCTACAAATTCTGAGACCACTTCAGCAGACCTGGTGCCT c.720
A G P P E T G A T N S E T T S A D L V P p.240
. . . . . . g.109316
CGGAGAGGCTACCAGGAATACGCCATTCAGCAGACACCTTATGAGCAACCAATGAAGTCA c.780
R R G Y Q E Y A I Q Q T P Y E Q P M K S p.260
| 06 . . . . . . g.115171
AGCAG | GCTAGGTCCCACTCAGCTCAAAATCTTCACTTGTGAATACTGCAACAAGGTCTTC c.840
S R | L G P T Q L K I F T C E Y C N K V F p.280
. . . . . . g.115231
AAGTTCAAGCACTCGCTGCAGGCCCACCTGAGGATCCACACCAATGAAAAGCCATACAAG c.900
K F K H S L Q A H L R I H T N E K P Y K p.300
. . . . . . g.115291
TGCCCCCAGTGCAGCTATGCCAGTGCCATCAAGGCCAACCTCAATGTGCACCTGCGCAAG c.960
C P Q C S Y A S A I K A N L N V H L R K p.320
. . . . . . g.115351
CACACTGGAGAGAAGTTCGCCTGCGACTATTGCTCGTTCACCTGCCTGAGCAAGGGCCAC c.1020
H T G E K F A C D Y C S F T C L S K G H p.340
. . . . . . g.115411
CTCAAGGTGCACATCGAGCGAGTGCACAAGAAGATCAAGCAGCACTGCCGCTTCTGCAAG c.1080
L K V H I E R V H K K I K Q H C R F C K p.360
. . . . . . g.115471
AAGAAGTACTCTGACGTCAAGAACCTCATCAAGCACATCCGAGACGCGCATGACCCACAG c.1140
K K Y S D V K N L I K H I R D A H D P Q p.380
. . . . . . g.115531
GACAAGAAGGTCAAAGAGGCCTTGGACGAGCTCTGCCTGATGACGAGGGAGGGCAAGCGG c.1200
D K K V K E A L D E L C L M T R E G K R p.400
. . . . . . g.115591
CAGCTGCTCTATGACTGCCACATCTGTGAGCGCAAGTTCAAGAACGAGCTGGACCGTGAC c.1260
Q L L Y D C H I C E R K F K N E L D R D p.420
. . . . . . g.115651
CGCCATATGCTGGTCCACGGAGACAAGTGGCCTTTTGCCTGTGAGCTCTGTGGCCATGGG c.1320
R H M L V H G D K W P F A C E L C G H G p.440
. . . . . . g.115711
GCCACCAAGTACCAGGCGCTGGAACTGCATGTCAGGAAGCACCCCTTCGTGTACGTCTGT c.1380
A T K Y Q A L E L H V R K H P F V Y V C p.460
. . . . . . g.115771
GCCGTCTGCCGCAAGAAGTTCGTCAGCTCCATCAGGCTGCGCACCCACATCAAAGAGGTG c.1440
A V C R K K F V S S I R L R T H I K E V p.480
. . . . . . g.115831
CACGGGGCTGCCCAGGAGGCCTTGGTCTTCACCAGTTCCATCAACCAGAGCTTCTGCCTC c.1500
H G A A Q E A L V F T S S I N Q S F C L p.500
. . . . . . g.115891
CTGGAACCTGGTGGGGACATCCAGCAAGAAGCTCTGGGGGACCAGCTACAGCTGGTGGAA c.1560
L E P G G D I Q Q E A L G D Q L Q L V E p.520
. . . . . . g.115951
GAGGAGTTTGCCCTCCAGGGCGTGAATGCACTCAAGGAAGAGGCCTGTCCTGGGGACACT c.1620
E E F A L Q G V N A L K E E A C P G D T p.540
. . . . . . g.116011
CAGCTGGAGGAGGGCCGGAAGGAGCCGGAGGCCCCTGGGGAAATGCCTGCCCCAGCTGTG c.1680
Q L E E G R K E P E A P G E M P A P A V p.560
. . . . . . g.116071
CACCTGGCCTCCCCGCAGGCCGAAAGCACAGCCCTGCCACCCTGTGAGCTGGAAACCACC c.1740
H L A S P Q A E S T A L P P C E L E T T p.580
. . . . . . g.116131
GTGGTCTCCTCCTCAGACCTGCATTCTCAAGAGGTGGTTTCAGATGATTTTTTGTTGAAA c.1800
V V S S S D L H S Q E V V S D D F L L K p.600
. . . . . . g.116191
AATGATACCTCCTCCGCAGAGGCTCATGCTGCTCCTGAGAAGCCCCCAGACATGCAGCAC c.1860
N D T S S A E A H A A P E K P P D M Q H p.620
. . . . . . g.116251
AGAAGCTCAGTCCAGACGCAAGGTGAAGTGATCACACTACTGCTGTCCAAGGCCCAGAGT c.1920
R S S V Q T Q G E V I T L L L S K A Q S p.640
. . . . . . g.116311
GCTGGGTCAGATCAGGAAAGCCATGGCGCCCAGAGCCCCCTAGGGGAAGGGCAGAACATG c.1980
A G S D Q E S H G A Q S P L G E G Q N M p.660
. . . . . . g.116371
GCTGTGCTTTCAGCTGGTGACCCAGATCCCAGCAGGTGTCTCAGGTCAAACCCAGCTGAG c.2040
A V L S A G D P D P S R C L R S N P A E p.680
. . . . . . g.116431
GCCTCAGACCTCCTCCCTCCAGTAGCTGGTGGTGGGGACACCATCACACATCAGCCTGAC c.2100
A S D L L P P V A G G G D T I T H Q P D p.700
. . . . . . g.116491
TCTTGCAAAGCTGCCCCTGAGCACCGGTCAGGCATCACCGCTTTCATGAAGGTCCTGAAC c.2160
S C K A A P E H R S G I T A F M K V L N p.720
. . . . . . g.116551
AGTTTACAGAAGAAGCAAATGAACACCAGCTTGTGTGAGCGGATCCGGAAGGTTTATGGA c.2220
S L Q K K Q M N T S L C E R I R K V Y G p.740
. . | 07 . . . . g.117419
GACCTGGAGTGTGAATACTGTG | GCAAACTTTTTTGGTACCAAGTGCATTTTGATATGCAT c.2280
D L E C E Y C G | K L F W Y Q V H F D M H p.760
. . . . . . g.117479
GTCCGCACCCACACCCGGGAACATCTGTATTATTGCTCTCAGTGTCATTATTCTTCCATC c.2340
V R T H T R E H L Y Y C S Q C H Y S S I p.780
. . . . . . g.117539
ACCAAAAACTGCCTTAAACGCCACGTAATTCAGAAACACAGTAACATCTTGCTGAAGTGT c.2400
T K N C L K R H V I Q K H S N I L L K C p.800
. . . . . . g.117599
CCCACCGATGGCTGTGACTACTCAACTCCAGATAAATATAAGCTACAGGCACATCTTAAA c.2460
P T D G C D Y S T P D K Y K L Q A H L K p.820
. | 08 . . . . . g.127739
GTTCACACAGCACTG | GACAAAAGGAGTTATTCTTGTCCTGTTTGTGAAAAGTCTTTTTCA c.2520
V H T A L | D K R S Y S C P V C E K S F S p.840
. . . . | 09 . . g.129671
GAGGATCGATTGATAAAGTCACATATCAAGACCAACCATCCTG | AGGTCTCCATGAGCACC c.2580
E D R L I K S H I K T N H P E | V S M S T p.860
. . . . . . g.129731
ATTTCTGAGGTTCTCGGGAGGAGGGTTCAGCTGAAAGGGCTAATTGGAAAGAGAGCCATG c.2640
I S E V L G R R V Q L K G L I G K R A M p.880
. . . . . . g.129791
AAATGCCCATATTGTGACTTTTATTTCATGAAGAATGGCTCAGACCTTCAGCGTCATATT c.2700
K C P Y C D F Y F M K N G S D L Q R H I p.900
. | 10 . . . . . g.134091
TGGGCTCATGAAG | GTGTGAAGCCCTTCAAGTGTTCTTTGTGTGAGTATGCAACTCGTAGC c.2760
W A H E G | V K P F K C S L C E Y A T R S p.920
. . . . . . g.134151
AAGAGTAACCTCAAGGCTCATATGAATCGTCACAGCACTGAGAAAACCCACCTATGTGAC c.2820
K S N L K A H M N R H S T E K T H L C D p.940
. . . . . . g.134211
ATGTGTGGCAAGAAATTCAAATCAAAAGGGACACTGAAAAGTCACAAACTCCTTCACACT c.2880
M C G K K F K S K G T L K S H K L L H T p.960
| 11. . . . . . g.152681
GCAGATG | GGAAGCAGTTTAAGTGCACGGTGTGTGACTACACAGCGGCCCAGAAGCCACAG c.2940
A D G | K Q F K C T V C D Y T A A Q K P Q p.980
. . . | 12 . . . g.185101
CTGCTGCGGCACATGGAACAGCATGTCTCCTTCAAG | CCTTTCCGCTGTGCCCATTGCCAT c.3000
L L R H M E Q H V S F K | P F R C A H C H p.1000
. . . . . . g.185161
TACTCCTGCAACATATCTGGCTCTCTGAAGCGGCACTACAACAGGAAGCACCCTAATGAG c.3060
Y S C N I S G S L K R H Y N R K H P N E p.1020
. . . . . | 13 . g.197053
GAGTATGCCAACGTGGGCACCGGGGAGCTGGCAGCGGAGGTGCTCATCCAGCAAG | GTGGT c.3120
E Y A N V G T G E L A A E V L I Q Q G | G p.1040
. . . . . . g.197113
TTGAAGTGTCCTGTTTGCAGCTTTGTATATGGCACCAAATGGGAGTTCAATAGGCACTTG c.3180
L K C P V C S F V Y G T K W E F N R H L p.1060
. . . . . | 14 . g.205454
AAGAACAAACATGGCTTGAAGGTGGTGGAAATTGATGGAGACCCCAAGTGGGAG | ACAGCA c.3240
K N K H G L K V V E I D G D P K W E | T A p.1080
. . . . . . g.205514
ACAGAAGCTCCTGAGGAGCCCTCCACCCAGTATCTCCACATCACAGAGGCCGAAGAAGAC c.3300
T E A P E E P S T Q Y L H I T E A E E D p.1100
. . . . . . g.205574
GTTCAAGGGACACAGGCAGCGGTGGCCGCGCTCCAGGACCTGAGATACACCTCTGAGAGT c.3360
V Q G T Q A A V A A L Q D L R Y T S E S p.1120
| 15 . . . . . . g.208359
G | GCGACCGACTGGACCCCACGGCCGTGAACATCCTGCAGCAGATCATTGAGCTGGGCGCC c.3420
G | D R L D P T A V N I L Q Q I I E L G A p.1140
. . . . . . g.208419
GAGACCCATGACGCCACTGCCCTTGCCTCGGTGGTTGCCATGGCACCAGGGACGGTGACT c.3480
E T H D A T A L A S V V A M A P G T V T p.1160
. | 16 . . . . . g.239376
GTGGTTAAGCAG | GTCACCGAGGAGGAGCCCAGCTCCAACCACACGGTCATGATCCAGGAG c.3540
V V K Q | V T E E E P S S N H T V M I Q E p.1180
. . . . . . g.239436
ACGGTCCAGCAAGCGTCCGTGGAGCTTGCCGAGCAGCACCACCTGGTGGTGTCCTCCGAC c.3600
T V Q Q A S V E L A E Q H H L V V S S D p.1200
. . . . . . g.239496
GACGTGGAGGGCATTGAGACGGTGACTGTCTACACGCAGGGCGGGGAGGCCTCGGAGTTC c.3660
D V E G I E T V T V Y T Q G G E A S E F p.1220
. . . . . . g.239556
ATCGTCTACGTGCAGGAGGCCATGCAGCCTGTGGAGGAGCAGGCTGTGGAGCAGCCGGCC c.3720
I V Y V Q E A M Q P V E E Q A V E Q P A p.1240
. g.239568
CAGGAACTCTAG c.3732
Q E L X p.1243
. . . . . . g.239628
aggacatgtggcatcggatggccacagggcggggctgccaggctctgcaggcacccaggg c.*60
. . . . . . g.239688
tggggaggccacccttcctgccctacccgcagaatggtgctctcctttgccctccctgcc c.*120
. . . . . . g.239748
cagcagcctgataggactctcctagtccaacttggggtgggcaaggcagtcagcatcacc c.*180
. . . . . . g.239808
agcaataccacaggaccctcaccccagcatagacacacaccccctgacccttaccatctg c.*240
. . . . . . g.239868
cttcctgaaagacttcagtgtcagctcccctacacacaccccacaccttcaccccttgct c.*300
. . . . . . g.239928
tcaagattcaaacagagactcccagtccccctcagcatcttccctgaatcacagccccag c.*360
. . . . . . g.239988
ctccttgacccccatctaggtgccaaatgttcatctgcaaccgctatgcagtctggtgag c.*420
. . . . . . g.240048
agggagacagccatcacatagaaagtgaccgtacgggtttttaatcactgctgggtgggg c.*480
. . . . . . g.240108
tgggggtagggggattgtcctggctttgtcgacaaagtcccacttccccgagtattaagg c.*540
. . . . . . g.240168
gcccttggtatcaagtgaggtaaattcacccatcacagggtctcgccctaccatcctgga c.*600
. . . . . . g.240228
attatttcacttttaagataaatgcactatttcactgttcgcctcccattctaaggaggt c.*660
. . . g.240262
gaggtggttggaataaaaacagttcctgtctgaa c.*694
(downstream sequence)
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