(used for variant description)
(last modified October 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_015100.3 in the POGZ gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering POGZ transcript NM_015100.3.
(upstream sequence)
. g.5015
ggggggagtcggcgt c.-301
. . . . . . g.5075
ctctctcccccgcgccagctcccgtacacggagccgcattccttggcccccccacccccc c.-241
. . . . . . g.5135
tccctcggggcccccccgcccccctcgggaaaaaaatccaccccgaatcactcgaacccg c.-181
. . . . . . g.5195
agggaggcttcctttcacccttggggagacgagctttcaacggttacctcttcttcgtct c.-121
. . . . . . g.5255
ccccccaagcccccgtcccctccccctgctcccacccccttctggcgccgggtgtaaggt c.-61
. . . . . . | 02 g.22261
ccctttaaggcgacggcgccttcctcgggtcagactaccggcggcgacgaccacaggag | c c.-1
. . . . . . g.22321
ATGGCGGACACCGACCTGTTCATGGAATGTGAGGAGGAGGAGTTGGAGCCATGGCAGAAA c.60
M A D T D L F M E C E E E E L E P W Q K p.20
. . . . . . g.22381
ATCAGTGATGTCATTGAGGACTCTGTAGTTGAAGATTATAATTCAGTGGATAAAACTACC c.120
I S D V I E D S V V E D Y N S V D K T T p.40
| 03 . . . . . . g.23435
ACAG | TTTCTGTGAGCCAGCAGCCAGTCTCGGCTCCAGTGCCCATCGCTGCCCATGCTTCT c.180
T V | S V S Q Q P V S A P V P I A A H A S p.60
. . . . . . g.23495
GTTGCTGGGCACCTCTCTACATCCACCACCGTTAGTAGCAGCGGGGCACAGAACAGCGAC c.240
V A G H L S T S T T V S S S G A Q N S D p.80
. . . . | 04 . . g.33641
AGTACAAAGAAGACTCTTGTCACACTAATTGCCAACAACAATG | CTGGCAATCCTTTGGTC c.300
S T K K T L V T L I A N N N A | G N P L V p.100
. . . . . . g.33701
CAGCAAGGTGGACAGCCACTCATCCTGACCCAGAATCCAGCCCCAGGTCTGGGCACAATG c.360
Q Q G G Q P L I L T Q N P A P G L G T M p.120
. . . . . . g.33761
GTTACTCAACCAGTATTGAGGCCTGTTCAGGTCATGCAGAATGCCAATCATGTGACTAGT c.420
V T Q P V L R P V Q V M Q N A N H V T S p.140
. . . | 05 . . g.34775
TCCCCTGTGGCCTCACAACCAATATTTATCACTACGCAG | GGATTTCCTGTAAGGAATGTC c.480
S P V A S Q P I F I T T Q | G F P V R N V p.160
. . . . . . g.34835
CGGCCTGTACAAAATGCAATGAATCAGGTTGGGATTGTGCTGAACGTACAGCAAGGCCAA c.540
R P V Q N A M N Q V G I V L N V Q Q G Q p.180
. . | 06 . . . g.36084
ACGGTTAGACCAATTACACTAGTTCCAG | CCCCAGGTACCCAGTTTGTTAAGCCGACAGTT c.600
T V R P I T L V P A | P G T Q F V K P T V p.200
. . . . . . g.36144
GGAGTTCCACAAGTGTTCTCCCAGATGACCCCTGTGAGGCCAGGCTCCACAATGCCTGTG c.660
G V P Q V F S Q M T P V R P G S T M P V p.220
. . . . . . g.36204
AGGCCCACCACCAACACCTTCACCACCGTCATCCCGGCCACTCTTACCATTCGAAGCACC c.720
R P T T N T F T T V I P A T L T I R S T p.240
. . . . . . g.36264
GTCCCACAGTCCCAGTCCCAGCAGACCAAGTCCACTCCCAGCACTTCTACCACTCCCACT c.780
V P Q S Q S Q Q T K S T P S T S T T P T p.260
. . . . . . g.36324
GCCACACAGCCAACCTCACTGGGGCAACTAGCTGTTCAGTCTCCAGGCCAGTCAAACCAG c.840
A T Q P T S L G Q L A V Q S P G Q S N Q p.280
. | 07 . . . . g.36465
ACCACGAATCCCAAGCTAG | CTCCCTCCTTCCCCTCTCCACCTGCAGTGAGCATTGCCAGC c.900
T T N P K L A | P S F P S P P A V S I A S p.300
. . . . . . g.36525
TTTGTCACTGTGAAGCGACCTGGTGTTACAGGCGAAAATAGCAATGAAGTGGCCAAATTG c.960
F V T V K R P G V T G E N S N E V A K L p.320
. . . . . . g.36585
GTGAATACCCTTAACACCATCCCTTCCCTGGGCCAGAGTCCTGGGCCAGTGGTGGTGTCC c.1020
V N T L N T I P S L G Q S P G P V V V S p.340
. . . . . | 08 g.39406
AACAACAGCTCTGCTCATGGCTCTCAAAGAACCAGCGGACCTGAGTCTTCAATGAAAG | TG c.1080
N N S S A H G S Q R T S G P E S S M K V | p.360
. . . . . . g.39466
ACCTCTTCCATCCCAGTATTTGACCTCCAGGATGGTGGACGGAAAATATGTCCACGATGT c.1140
T S S I P V F D L Q D G G R K I C P R C p.380
. . . . | 09 . . g.40194
AATGCTCAATTTCGTGTTACTGAAGCTTTGAGAGGTCACATGTGT | TACTGTTGCCCAGAA c.1200
N A Q F R V T E A L R G H M C | Y C C P E p.400
. . . . . . g.40254
ATGGTTGAATACCAGAAGAAAGGAAAGTCCCTGGATTCAGAACCCAGTGTCCCATCAGCA c.1260
M V E Y Q K K G K S L D S E P S V P S A p.420
. . . . . . g.40314
GCAAAGCCCCCATCCCCTGAGAAAACAGCTCCTGTTGCTTCCACACCCTCTTCTACACCT c.1320
A K P P S P E K T A P V A S T P S S T P p.440
. . . . . . g.40374
ATTCCTGCTCTGTCACCGCCTACCAAAGTACCAGAACCAAATGAGAACGTGGGCGATGCC c.1380
I P A L S P P T K V P E P N E N V G D A p.460
. . . . . . g.40434
GTCCAGACCAAACTCATTATGCTTGTAGATGACTTCTACTATGGACGGGATGGTGGCAAA c.1440
V Q T K L I M L V D D F Y Y G R D G G K p.480
. . . . . . g.40494
GTAGCCCAGCTCACAAATTTCCCTAAGGTCGCCACATCTTTCCGATGCCCACATTGTACC c.1500
V A Q L T N F P K V A T S F R C P H C T p.500
. . | 10 . . . . g.40951
AAAAGGCTAAAAAACAATATTCG | ATTCATGAACCATATGAAACACCACGTAGAACTCGAT c.1560
K R L K N N I R | F M N H M K H H V E L D p.520
. . . . . . g.41011
CAGCAGAACGGTGAGGTAGATGGTCACACTATCTGCCAGCACTGTTACCGCCAGTTTTCC c.1620
Q Q N G E V D G H T I C Q H C Y R Q F S p.540
. . . . . | 11 g.52071
ACTCCCTTCCAGCTTCAGTGCCACTTGGAAAATGTTCATAGTCCCTATGAATCTACTA | CC c.1680
T P F Q L Q C H L E N V H S P Y E S T T | p.560
. . . . . . g.52131
AAGTGCAAGATCTGTGAATGGGCGTTTGAAAGTGAGCCACTATTTCTCCAGCATATGAAG c.1740
K C K I C E W A F E S E P L F L Q H M K p.580
. . . | 12 . . g.52715
GATACTCATAAGCCTGGAGAGATGCCTTATGTTTGCCAG | GTGTGTCAATATCGCTCCTCA c.1800
D T H K P G E M P Y V C Q | V C Q Y R S S p.600
. . . . . . g.52775
CTCTACTCTGAGGTAGATGTCCATTTTCGGATGATCCATGAGGATACCCGGCATCTGCTC c.1860
L Y S E V D V H F R M I H E D T R H L L p.620
. . . . . . g.52835
TGCCCTTATTGCCTGAAGGTCTTCAAAAATGGCAATGCATTCCAACAGCATTACATGAGG c.1920
C P Y C L K V F K N G N A F Q Q H Y M R p.640
| 13 . . . . . . g.55691
CACCAG | AAGAGAAATGTTTATCACTGCAACAAATGCCGGCTGCAGTTTCTCTTTGCCAAG c.1980
H Q | K R N V Y H C N K C R L Q F L F A K p.660
. . . . . . g.55751
GACAAAATTGAACACAAGCTTCAACACCATAAAACCTTCCGTAAACCCAAGCAGCTGGAG c.2040
D K I E H K L Q H H K T F R K P K Q L E p.680
. . | 14 . . . . g.55923
GGCTTGAAACCAGGCACCAAG | GTGACAATCCGGGCTTCCCGAGGGCAGCCACGAACTGTT c.2100
G L K P G T K | V T I R A S R G Q P R T V p.700
. . . . . . g.55983
CCTGTATCCTCTAATGATACACCTCCCAGCGCCTTGCAGGAGGCAGCACCGCTGACCTCC c.2160
P V S S N D T P P S A L Q E A A P L T S p.720
. . . . . . g.56043
TCAATGGACCCTCTGCCTGTCTTCCTTTATCCCCCTGTCCAGCGCAGCATCCAGAAGAGA c.2220
S M D P L P V F L Y P P V Q R S I Q K R p.740
. | 15 . . . . . g.56271
GCTGTTAGGAAAAT | GAGTGTCATGGGCCGGCAGACATGCCTGGAGTGCAGCTTCGAGATC c.2280
A V R K M | S V M G R Q T C L E C S F E I p.760
. . . . . . g.56331
CCAGACTTCCCTAATCATTTCCCTACTTACGTACACTGCTCTCTGTGTCGCTATAGCACC c.2340
P D F P N H F P T Y V H C S L C R Y S T p.780
. . . | 16 . . . g.57199
TGCTGTTCTCGAGCTTATGCCAACCACATGATCAA | CAATCATGTTCCACGGAAGAGCCCC c.2400
C C S R A Y A N H M I N | N H V P R K S P p.800
. . . | 17 . . . g.57470
AAGTATTTGGCTTTGTTTAAAAATTCTGTGAG | TGGAATCAAGCTGGCCTGCACTTCATGT c.2460
K Y L A L F K N S V S | G I K L A C T S C p.820
. . . . . . g.57530
ACCTTTGTTACCTCTGTGGGCGATGCTATGGCCAAGCATTTGGTATTCAACCCCTCTCAC c.2520
T F V T S V G D A M A K H L V F N P S H p.840
. . | 18 . . . | 19 . g.58011
AGATCCAGCAGCATCCTGCCACGGG | GACTCACTTGGATAGCTCACTCAAG | GCATGGCCAG c.2580
R S S S I L P R G | L T W I A H S R | H G Q p.860
. . . . . . g.58071
ACTCGTGACCGAGTGCATGACCGGAACGTGAAGAATATGTACCCTCCTCCTTCCTTCCCC c.2640
T R D R V H D R N V K N M Y P P P S F P p.880
. . . . . . g.58131
ACTAACAAAGCTGCCACTGTGAAATCTGCGGGGGCCACCCCAGCTGAGCCTGAAGAGCTA c.2700
T N K A A T V K S A G A T P A E P E E L p.900
. . . . . . g.58191
CTAACTCCCTTAGCCCCAGCACTCCCATCACCAGCCTCAACTGCAACCCCACCACCAACC c.2760
L T P L A P A L P S P A S T A T P P P T p.920
. . . . . . g.58251
CCCACTCACCCGCAGGCTTTAGCCCTTCCACCGCTGGCTACAGAGGGAGCCGAATGTCTG c.2820
P T H P Q A L A L P P L A T E G A E C L p.940
. . . . . . g.58311
AATGTTGATGATCAGGATGAAGGGAGCCCAGTCACCCAAGAACCTGAGCTAGCATCAGGT c.2880
N V D D Q D E G S P V T Q E P E L A S G p.960
. . . . . . g.58371
GGTGGTGGTAGTGGTGGAGTTGGCAAAAAGGAGCAGCTGTCTGTGAAGAAGCTTCGAGTA c.2940
G G G S G G V G K K E Q L S V K K L R V p.980
. . . . . . g.58431
GTACTGTTTGCTCTATGCTGCAATACAGAACAGGCAGCTGAACACTTCCGAAATCCCCAG c.3000
V L F A L C C N T E Q A A E H F R N P Q p.1000
. . . . . . g.58491
CGACGTATTCGCCGTTGGCTTCGACGTTTCCAGGCCTCCCAGGGGGAGAATCTAGAGGGC c.3060
R R I R R W L R R F Q A S Q G E N L E G p.1020
. . . . . . g.58551
AAATATCTGAGCTTTGAGGCAGAAGAGAAACTGGCTGAGTGGGTGCTAACCCAGCGCGAA c.3120
K Y L S F E A E E K L A E W V L T Q R E p.1040
. . . . . . g.58611
CAACAGCTACCTGTAAATGAGGAGACCTTGTTCCAGAAGGCCACCAAAATAGGACGTTCT c.3180
Q Q L P V N E E T L F Q K A T K I G R S p.1060
. . . . . . g.58671
TTGGAAGGGGGGTTTAAGATCTCCTATGAGTGGGCTGTGCGTTTCATGCTGCGGCACCAC c.3240
L E G G F K I S Y E W A V R F M L R H H p.1080
. . . . . . g.58731
CTGACTCCCCATGCCCGGCGAGCTGTGGCCCACACCCTACCTAAGGATGTAGCAGAGAAT c.3300
L T P H A R R A V A H T L P K D V A E N p.1100
. . . . . . g.58791
GCAGGACTCTTCATTGATTTTGTACAACGGCAGATTCACAACCAGGACTTACCCTTGTCT c.3360
A G L F I D F V Q R Q I H N Q D L P L S p.1120
. . . . . . g.58851
ATGATTGTGGCTATTGATGAGATCTCTTTGTTCCTGGATACAGAGGTGCTGAGCAGTGAT c.3420
M I V A I D E I S L F L D T E V L S S D p.1140
. . . . . . g.58911
GATCGAAAGGAGAATGCCCTGCAGACAGTGGGCACAGGGGAACCTTGGTGTGATGTAGTC c.3480
D R K E N A L Q T V G T G E P W C D V V p.1160
. . . . . . g.58971
CTAGCCATTCTGGCAGATGGCACTGTCCTTCCCACCCTGGTTTTCTACAGAGGGCAGATG c.3540
L A I L A D G T V L P T L V F Y R G Q M p.1180
. . . . . . g.59031
GATCAGCCTGCTAACATGCCAGACTCCATATTGCTAGAGGCAAAGGAGAGTGGCTACAGT c.3600
D Q P A N M P D S I L L E A K E S G Y S p.1200
. . . . . . g.59091
GATGACGAGATCATGGAGCTGTGGTCAACTCGAGTGTGGCAGAAGCACACAGCTTGCCAG c.3660
D D E I M E L W S T R V W Q K H T A C Q p.1220
. . . . . . g.59151
CGCAGCAAAGGCATGCTTGTGATGGACTGTCATCGCACTCACTTGTCAGAAGAGGTACTG c.3720
R S K G M L V M D C H R T H L S E E V L p.1240
. . . . . . g.59211
GCTATGCTTAGTGCCTCTAGCACTTTGCCTGCAGTGGTCCCAGCAGGCTGTAGCTCCAAA c.3780
A M L S A S S T L P A V V P A G C S S K p.1260
. . . . . . g.59271
ATTCAGCCATTAGATGTATGCATCAAAAGAACTGTCAAGAACTTCCTGCATAAAAAATGG c.3840
I Q P L D V C I K R T V K N F L H K K W p.1280
. . . . . . g.59331
AAGGAACAGGCTCGGGAAATGGCAGATACTGCATGTGATTCTGATGTCCTGCTTCAGCTG c.3900
K E Q A R E M A D T A C D S D V L L Q L p.1300
. . . . . . g.59391
GTGCTTGTCTGGCTGGGTGAAGTGCTAGGTGTCATTGGGGACTGTCCAGAGCTAGTTCAG c.3960
V L V W L G E V L G V I G D C P E L V Q p.1320
. . . . . . g.59451
CGCTCCTTCCTGGTGGCTAGTGTTCTGCCTGGCCCCGATGGCAACATTAACTCACCTACA c.4020
R S F L V A S V L P G P D G N I N S P T p.1340
. . . . . . g.59511
AGAAATGCTGACATGCAGGAGGAGCTAATTGCCTCCCTAGAGGAGCAACTGAAGCTGAGT c.4080
R N A D M Q E E L I A S L E E Q L K L S p.1360
. . . . . . g.59571
GGGGAACATTCTGAGTCTTCCACTCCACGACCCAGATCATCTCCTGAAGAGACAATTGAG c.4140
G E H S E S S T P R P R S S P E E T I E p.1380
. . . . . . g.59631
CCTGAAAGTCTTCACCAGCTCTTTGAGGGTGAAAGTGAGACCGAGTCTTTCTATGGCTTT c.4200
P E S L H Q L F E G E S E T E S F Y G F p.1400
. . . g.59664
GAAGAAGCTGACCTAGATCTGATGGAGATTTGA c.4233
E E A D L D L M E I X p.1410
. . . . . . g.59724
gtgttggggtcatgagggggtgtggagtgagggtgggaacatgtgagggagggtaaaggg c.*60
. . . . . . g.59784
gcttagggaaaagggggcataccaggtggggtatttggtttctattttttaattttatac c.*120
. . . . . . g.59844
caccactcccccctgaagttgacttacacttccctgtggatttgtggattaattaggaaa c.*180
. . . . . . g.59904
accaatagtaatcacgtctgagccaaggagctggcccattggtcattcacttctgctaaa c.*240
. . . . . . g.59964
aacaggtttttgtgactttttttttttttaaatttaaatcactgtgtttggtatttttct c.*300
. . . . . . g.60024
gacaaaattaagaaaaagaaaaaaaattatttgtgggcaaatgttaaatttttttgtttc c.*360
. . . . . . g.60084
cccttttacctcaattgtatcatagtactgggtttttttgtttgttttattgtgtggcca c.*420
. . . . . . g.60144
atgtctttgggcatgatgctatctaatcattgttaatgtgagaacatttctgaagatggg c.*480
. . . . . . g.60204
aaagacaaattatgtagctcacaaactggtttattatatatatggataaaaaactttttt c.*540
. . . . . . g.60264
cattgtggtcttaacacttttatataaaaatgaaaatggaaaaaaagtcccactgaactc c.*600
. . . . . . g.60324
tctcttccttctccttttctttccttccctctccagagatgttggtttctacagcaaccc c.*660
. . . . . . g.60384
tagatataaaattgtggctttaaaaatgcatgaaaccacctttaattatccagaatgaat c.*720
. . . . . . g.60444
agatttgtcttttcctcaccaccttccctccaaaacatgacataaacaatattttttgca c.*780
. . . . . . g.60504
cttgtgatccttggcccctttccccattctcaacaccatccatccctctggacaaaggat c.*840
. . . . . . g.60564
catacaggtgttattagcaagcaagagatactgaagcgatcaaacagttttagggtggaa c.*900
. . . . . . g.60624
gccattcccagtttgagtcttcatcctgtaagcccccaggggcagtccctgctttactga c.*960
. . . . . . g.60684
acttcatcctgttagatggagagcatgcctgtttaagggattactggtcctacagccagg c.*1020
. . . . . . g.60744
agctaattgttcaagaagtgttgaactttaaaaagacaagaccacttgttgaaatccagc c.*1080
. . . . . . g.60804
gtgctctgtggctttcccctatttctcttaatacttagggaagaatctgacaggaagaag c.*1140
. . . . . . g.60864
cgcacaggggtgtgcacaaagaaaatgacatgaatctttatttttcactgccagcttcaa c.*1200
. . . . . . g.60924
ggaaagaaaattttttctacaatttgcatgagggatttttttaattgtatgtactcatgg c.*1260
. . . . . . g.60984
ttgtaaaccaaaacgtactgtaccgtacagagaaaaggagcaaaaaaccaagtcttctgt c.*1320
. . . . . . g.61044
ttatcctgaggctttccacaatgttcccctcctgtgagccaaggaggcaaactgcacaag c.*1380
. . . . . . g.61104
cttgtaaatggttcgtctttaaaatgtacataagtggaacatttaataaaatgaggggaa c.*1440
. . . . . . g.61164
atggatttataaacttgttttttttctaggtgaccctgtttaataggctttcacagactg c.*1500
. . . . . . g.61224
gggaatgctcaagatgtgatgggcctggtggtacaggtgtgacatttgttaccacccatt c.*1560
. . . . . . g.61284
tctcccaccccaccctgcttttttgtttgtttgttttttcatcccccagcacactataat c.*1620
. . . . . . g.61344
atagtgaactggaaaagtcccttccagaaacagcttggccagctttgtgaacctttgaca c.*1680
. . . . . . g.61404
tctgaaaacaaccaaggatccatctgggcttctcttccccagctttttgcctgatgccat c.*1740
. . . . . . g.61464
tttattgacagacaatggactttgaagtcagcctttgcctttgagaaagttcaagaacta c.*1800
. . . . . . g.61524
tggttggtcacgtctatctacaacctaatcctactctttggtagtctctgcagcagccac c.*1860
. . . . . . g.61584
agccttagcagagctggggttcctgtcttctgcacacgattgactttcttgatgggtaat c.*1920
. . . . . . g.61644
tttttttaagattataccaacagtggatcagctgggttttggccaggaagttgtctttgt c.*1980
. . . . . . g.61704
ggactctgcctgcatggcttagtagtagaaggaaatttttttttggttttgttttttata c.*2040
. . . g.61742
attcagtttaatcaataaacatgtatttattgactgtt c.*2078
(downstream sequence)
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