(used for variant description)
(last modified February 17, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001111298.2 in the PPIL6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PPIL6 transcript NM_001111298.2.
(upstream sequence)
. . . . g.5041
cagcagttgaggttgaagatccgcagtcgcagggagaagtt c.-541
. . . . . . g.5101
gggcttcatggttggggagctccaggggcgctaggcggctcgaactctccagcgacggcc c.-481
. . . . . . g.5161
gcggtggggacgggggcggccggcggcgccttctccccagaccgttccttcttcgcaggc c.-421
. . . . . . g.5221
ggcgcgcacaggtgggcaccaagcccgcgtggctcaggtcgggcccgactcccgcgttcc c.-361
. . . . . . g.5281
cccggcaaccggccggctgttcccaatcaggcgggccgccaacccggaaaggcgatccgc c.-301
. . . . . . g.5341
tgccgaaatccgggcgcccaggctcggtaagggccgcgcgctaggaccctgggggtccgg c.-241
. . . . . . g.5401
agagcgcccccgggtgggcggctcccggttccttttcctccaagctcgtccccggcggtc c.-181
. . . . . . g.5461
gcggccgcccgcgcgccggcggcccagcaacaggcgcaaagttgaggaaaggcccagccg c.-121
. . . . . . g.5521
ccacgggccgccctcgacccgcccctgggccccgcctcctgcgagcggcggaggcggggc c.-61
. . . . . . g.5581
cgcgcggttgccggagcgacgcgcagtgtttggggtcaccgggcgtccccgggcgcggcc c.-1
. . . . . . g.5641
ATGGCAAGGCCGCAGCCGTGCGGGCCCCCGCACGCTAGGTGCGGCTCGCCGTCGCTGCCG c.60
M A R P Q P C G P P H A R C G S P S L P p.20
. . . . . . g.5701
GAGCGGCCGCTGCAGGTGAAGGTGGTGGGGCTCTTCAGCTGCCCCAACTTTCAGATTGCG c.120
E R P L Q V K V V G L F S C P N F Q I A p.40
. | 02 . . . . . g.10017
AAGAGCGCCGCTGAG | AATCTGAAGAATAATCATCCATCCAAATTTGAAGATCCTATATTA c.180
K S A A E | N L K N N H P S K F E D P I L p.60
. . . . . | 03 . g.14835
GTTCCTCTTCAAGAATTTGCATGGCATCAATATCTACAGGAGAAAAAAAGG | GAACTCAAA c.240
V P L Q E F A W H Q Y L Q E K K R | E L K p.80
. . . . . . g.14895
AATGAAACCTGGGAATATTCTTCCTCTGTGATTTCTTTTGTTAATGGTCAGTTTCTGGGT c.300
N E T W E Y S S S V I S F V N G Q F L G p.100
. . . . . . g.14955
GATGCATTGGATCTGCAGAAATGGGCCCACGAGGTGTGGGATATAGTTGACATTAAACCC c.360
D A L D L Q K W A H E V W D I V D I K P p.120
. . . . . . g.15015
TCTGCACTTTATGACGCACTCACTGAGGATTTTTCCGCTAAGTTCTTAAGAGACACCAAG c.420
S A L Y D A L T E D F S A K F L R D T K p.140
| 04 . . . . . . g.19075
| CATGATTTCGTGTTTTTGGACATTTGTATTGATTCTTCTCCAATTGGAAGATTGATTTTT c.480
| H D F V F L D I C I D S S P I G R L I F p.160
| 05 . . . . . . g.19234
GAG | CTATACTGTGATGTGTGTCCCAAAACATGTAAAAATTTTCAGGTCTTGTGCACAGGA c.540
E | L Y C D V C P K T C K N F Q V L C T G p.180
. . . . . . g.19294
AAAGCAGGGTTTTCTCAACGTGGCATAAGACTACATTACAAAAATTCCATTTTTCATCGA c.600
K A G F S Q R G I R L H Y K N S I F H R p.200
. . . | 06 . . . g.26957
ATAGTACAGAATGGCTGGATACAAGGAGGGG | ATATAGTGTATGGAAAAGGAGATAATGGA c.660
I V Q N G W I Q G G D | I V Y G K G D N G p.220
. . | 07 . . . g.43095
GAGTCGATTTATGGTCCAACATTTGAAG | AGCTTTATGGAAGCTTGAAAAGAAGTGTAAAG c.720
E S I Y G P T F E E | L Y G S L K R S V K p.240
. . . . | 08 . . g.46015
AGGCAGAAGGAAAGCAGAGGGGTTGGAAAGATCGAGAAATACCGAG | ATGAAAACTTTTCA c.780
R Q K E S R G V G K I E K Y R D | E N F S p.260
. . . . . . g.46075
GTTCCTCATAATAAAAGAGGAGTACTTGGAATGGCCAACAAAGGCCGTCACAGCAACGGG c.840
V P H N K R G V L G M A N K G R H S N G p.280
. . . . . . g.46135
TCACAATTCTATATCACACTGCAAGCAACTCCTTATCTAGATAGAAAATTTGTGGCTTTT c.900
S Q F Y I T L Q A T P Y L D R K F V A F p.300
| 09 . . . . . . g.53292
GG | GCAACTGATTGAAGGAACAGAAGTGCTTAAACAACTAGAATTAGTTCCAACACAGAAT c.960
G | Q L I E G T E V L K Q L E L V P T Q N p.320
. . . . . g.53346
GAAAGACCAATACATATGTGTAGAATTACTGACAGTGGAGATCCTTATGCTTGA c.1014
E R P I H M C R I T D S G D P Y A X p.337
. . . . . . g.53406
ttttcatatcaatattttctgtgataatttattactttgtatctgatcagctgtttgtgg c.*60
. . . . . . g.53466
atttaattaaaaagtacttgataaattgtaatttgaaagccgtggcagacactgtaggtt c.*120
. . . . . . g.53526
gcctcatctacacccaatccctccccatcttcctttcctgtctctgtcatagagactgtg c.*180
. . . . . . g.53586
aaagggtggtactcaatttcctagactcctttgcagccacgggtggccatgagagatggt c.*240
. . . . . . g.53646
tctggccagtgggacaggaatagaacgccagtggtcctgccccttccccttcatccagtc c.*300
. . . . . . g.53706
tggaatgtggagaggctggagctacagctgtcatcttgtggccataaagaaaaggctgag c.*360
. . . . . . g.53766
gccaggtgtggtagctcacgcctgtaatcccagcacttgggaggccgaggcaggtggatc c.*420
. . . . . . g.53826
acaagatcaagagattgagaccatcctggccaacatggtgaaaccctgtctctactaaaa c.*480
. . . . . . g.53886
ctacagaaattagctgggcatggtggcatgcacttgtagtcccagctacttgggaagctg c.*540
. . . . . . g.53946
aggcagaagaatctcttgaacccgggaggcggaggttgcagtgagccgagatgccgccac c.*600
. . . . . . g.54006
tgcactccagcctggcgacagagagagactgtctcaaaaaaaaagaaaggccaagtactg c.*660
. . . . . . g.54066
cagagatgtcagccccagtctcttgagctgcgggaccaataccagcaaccacctactctg c.*720
. . . . . . g.54126
gacttcttattataggagactaacagagccctgtgttgtgttgtttatgttactgttggt c.*780
. . . . . . g.54186
tgagaattttgttacttgtggacaaaaaattcttaatttagcaacacacctgatagccta c.*840
. . . . . . g.54246
agacatttgtaatagaattatgttcttgtttgtaactacatgtactcctaggagaaactt c.*900
. . . . . . g.54306
ggtaagtaaccaaataggaatgatgcagaagaaaaagcaattcattgtaatatttcattg c.*960
. . . . . . g.54366
tttataccagcattcagaaagagtatctacactttggatgttttcatatatgacatgaac c.*1020
. . . . . . g.54426
atcatccttatctctctgagccataccaaccctatgaaaaccaagggcttgttttacagt c.*1080
. . . . . . g.54486
gtccgtggtggctgactcatgtgatgttattggagattcagctttatcactactctgtaa c.*1140
. . . . . . g.54546
tctaaagttctcaagctcatatcacctggggagcttttaaaatgtaacctaacagacctt c.*1200
. . . . . . g.54606
gtccttgacctactgaggcagagttcccaggcgtggggcagagattctgtgttcatttgg c.*1260
. . . . . . g.54666
ttctttccccagggttcccaggcgtggggcacagattctgtgttcatttagctctttccc c.*1320
. . . . . . g.54726
cagggttcccatttagacagctgggcactagtcatctgggaatcactgcaagacataagg c.*1380
. . . . . . g.54786
aactggttccagtccccatggtgtaatgtagtcagcagagtgcttgactctgctattggt c.*1440
. . . . . . g.54846
gaccttgctcagctcctgttaccaccactaccctgtgcccctgctctgcccagactaaga c.*1500
. . . . . . g.54906
gtgcttttctttttttttttttttttttttttttttttgagacggaatctcactctgtcg c.*1560
. . . . . . g.54966
cccaggctggagtgcagtggcacaatctcggctcactgcaagctctgcctccctgattca c.*1620
. . . . . . g.55026
tgccattctcctgcctcagcctcccgagtagctgggactacaggcgcctgccaccacgcc c.*1680
. . . . . . g.55086
tggctaattttttgtatttttagtagagatgggatttcaccatgttagccaggatggtcc c.*1740
. . . . . . g.55146
cgatcttgtgacctcgtgatccgcccgcctcggcctcccaaagtgctgagattacaaagg c.*1800
. . . . . . g.55206
cgtgagccaccgcacccggctgagagtgcttttcttaccctaagcagaatgaggtttgtc c.*1860
. . . . . . g.55266
ttccaagaacaatctctatttacatcagtcttaaagaggcaggcttctaatggatatgag c.*1920
. . . . . . g.55326
gcttgccaaaagtaggcgtaggcttttttaactttttattttgaaatatagattcacagg c.*1980
. . . . . . g.55386
aagttgcaaaaatagtacagagcagtcctgtgtacctttcacccattttccccagtggct c.*2040
. . . . . . g.55446
acgcttacaaaacggtagtacaatatcaaaccaggcagctgacattggtacaatgtgtgt c.*2100
. . . . . . g.55506
gatgccattttatcatgagtatattcatgtaaccaacactatagagaaaatatagaacct c.*2160
. . . . . . g.55566
ttccagcacctcaaagacccccttccagtacccctttacagtcaacccactcccctgccc c.*2220
. . . . . . g.55626
tctgccatccctaactcctgacaactggcatttgcttttccttttaatgacagctttatt c.*2280
. . . . . . g.55686
gctatatgacatatgctttatgctaagacctgaggtggatgggaggaagcagaccgccta c.*2340
. . . . . . g.55746
tgttacattctcaactgacccagagcaacatagtgttaagaatgtgtgttctagggccag c.*2400
. . . . . . g.55806
aatcctggctctgccattccctagctgcacaaactcaggcaagaacttttctgtgcctca c.*2460
. . . . . . g.55866
attccttcatctgagaaacagtggtacctaccacataagattgctgtgagggttccatga c.*2520
. . . . . . g.55926
atcaataatttctataaagaacctataagagacctggtctgctgtaagcactcgataaat c.*2580
. . . g.55957
ttaataataaattactaatgtgtaaccttca c.*2611
(downstream sequence)
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