(used for mutation description)
(last modified September 8, 2014)
This file was created to facilitate the description of sequence variants in the PSIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
(upstream sequence)
. . g.1027
cagtgctagcgggcgccgagcgggagc c.-301
. . . . . . g.1087
cgcgcgggagcagcgcagctacggcggcggcagcggcggcgcggttgcgattccgagccg c.-241
. . . . . . g.1147
ttgagacgcctctgcggcagctggtggcgcaggtggcttgcgtggacgcgggtagaggcg c.-181
. . . . . | 02 . g.1697
accggccagcaaccgcagcgtcggcgcccgcggccccggcag | gcgcgtcgggacgccccg c.-121
. . . . . . g.1757
aggcatcctcccccgcccgcgggcccggtagctgggcccgcgtccgccgcccgcatcccc c.-61
. . . . . . g.1817
gcgccgccgcatctcctcgccgcctcccgggcttcggacccccggtctcgcccccgaaac c.-1
. . . . . . g.1877
ATGACTCGCGATTTCAAACCTGGAGACCTCATCTTCGCCAAGATGAAAGGTTATCCCCAT c.60
M T R D F K P G D L I F A K M K G Y P H p.20
. | 03 . . . . . g.5416
TGGCCAGCTCGA | GTAGACGAAGTTCCTGATGGAGCTGTAAAGCCACCCACAAACAAACTA c.120
W P A R | V D E V P D G A V K P P T N K L p.40
. . | 04 . . . g.21912
CCCATTTTCTTTTTTGGAACTCATGAGAC | TGCTTTTTTAGGACCAAAGGATATATTTCCT c.180
P I F F F G T H E T | A F L G P K D I F P p.60
. . . . . . g.21972
TACTCAGAAAATAAGGAAAAGTATGGCAAACCAAATAAAAGAAAAGGTTTTAATGAAGGT c.240
Y S E N K E K Y G K P N K R K G F N E G p.80
. . . . | 05 . g.25086
TTATGGGAGATAGATAACAATCCAAAAGTGAAATTTTCAAGTCAACAG | GCAGCAACTAAA c.300
L W E I D N N P K V K F S S Q Q | A A T K p.100
. . . . . . g.25146
CAATCAAATGCATCATCTGATGTTGAAGTTGAAGAAAAGGAAACTAGTGTTTCAAAGGAA c.360
Q S N A S S D V E V E E K E T S V S K E p.120
. . . | 06 . . . g.25964
GATACCGACCATGAAGAAAAAGCCAGCAATGAG | GATGTGACTAAAGCAGTTGACATAACT c.420
D T D H E E K A S N E | D V T K A V D I T p.140
. . . | 07 . . . g.32342
ACTCCAAAAGCTGCCAGAAGGGGGAGAAAGAGAAAG | GCAGAAAAACAAGTAGAAACTGAG c.480
T P K A A R R G R K R K | A E K Q V E T E p.160
. . . . . . g.32402
GAGGCAGGAGTAGTGACAACAGCAACAGCATCTGTTAATCTAAAAGTGAGTCCTAAAAGA c.540
E A G V V T T A T A S V N L K V S P K R p.180
. | 08 . . . . . g.33500
GGACGACCTGCAG | CTACAGAAGTCAAGATTCCAAAACCAAGAGGCAGACCCAAAATGGTA c.600
G R P A A | T E V K I P K P R G R P K M V p.200
. . | 09 . . . g.37799
AAACAGCCCTGTCCTTCAGAGAGTGACAT | CATTACTGAAGAGGACAAAAGTAAGAAAAAG c.660
K Q P C P S E S D I | I T E E D K S K K K p.220
. . . . . . g.37859
GGGCAAGAGGAAAAACAACCTAAAAAGCAGCCTAAGAAGGATGAAGAGGGCCAGAAGGAA c.720
G Q E E K Q P K K Q P K K D E E G Q K E p.240
. . . . . . g.37919
GAAGATAAGCCAAGAAAAGAGCCGGATAAAAAAGAGGGGAAGAAAGAAGTTGAATCAAAA c.780
E D K P R K E P D K K E G K K E V E S K p.260
. . . . . . g.37979
AGGAAAAATTTAGCTAAAACAGGGGTTACTTCAACCTCCGATTCTGAAGAAGAAGGAGAT c.840
R K N L A K T G V T S T S D S E E E G D p.280
. | 10 . . . . g.39297
GATCAAGAAGGTGAAAAG | AAGAGAAAAGGTGGGAGGAACTTTCAGACTGCTCACAGAAGG c.900
D Q E G E K | K R K G G R N F Q T A H R R p.300
. . . . . . g.39357
AATATGCTGAAAGGCCAACATGAGAAAGAAGCAGCAGATCGAAAACGCAAGCAAGAGGAA c.960
N M L K G Q H E K E A A D R K R K Q E E p.320
. | 11. . . . . g.42055
CAAATGGAAACTGAGCA | GCAGAATAAAGATGAAGGAAAGAAGCCAGAAGTTAAGAAAGTG c.1020
Q M E T E Q | Q N K D E G K K P E V K K V p.340
. | 12 . . . . . g.42716
GAGAAGAAGCGAG | AAACATCAATGGATTCTCGACTTCAAAGGATACATGCTGAGATTAAA c.1080
E K K R E | T S M D S R L Q R I H A E I K p.360
. . | 13 . . . . g.42983
AATTCACTCAAAATTGATAATCTT | GATGTGAACAGATGCATTGAGGCCTTGGATGAACTT c.1140
N S L K I D N L | D V N R C I E A L D E L p.380
. . . . . . g.43043
GCTTCACTTCAGGTCACAATGCAACAAGCTCAGAAACACACAGAGATGATTACTACACTG c.1200
A S L Q V T M Q Q A Q K H T E M I T T L p.400
| 14 . . . . . . g.43216
AAAAAA | ATACGGCGATTCAAAGTTAGTCAGGTAATCATGGAAAAGTCTACAATGTTGTAT c.1260
K K | I R R F K V S Q V I M E K S T M L Y p.420
. . . . . . g.43276
AACAAGTTTAAGAACATGTTCTTGGTTGGTGAAGGAGATTCCGTGATCACCCAAGTGCTG c.1320
N K F K N M F L V G E G D S V I T Q V L p.440
. . . . . . g.43336
AATAAATCTCTTGCTGAACAAAGACAGCATGAGGAAGCGAATAAAACCAAAGATCAAGGG c.1380
N K S L A E Q R Q H E E A N K T K D Q G p.460
. . . . | 15 . . g.45166
AAGAAAGGGCCAAACAAAAAGCTAGAGAAGGAACAAACAG | GGTCAAAGACTCTAAATGGA c.1440
K K G P N K K L E K E Q T G | S K T L N G p.480
. . . . . . g.45226
GGATCTGATGCTCAAGATGGTAATCAGCCACAACATAACGGGGAGAGCAATGAAGACAGC c.1500
G S D A Q D G N Q P Q H N G E S N E D S p.500
. . . | 16 . . . g.46453
AAAGACAACCATGAAGCCAGCACGAAGAAAAA | GCCATCCAGTGAAGAGAGAGAGACTGAA c.1560
K D N H E A S T K K K | P S S E E R E T E p.520
. . . g.46486
ATATCTCTGAAGGATTCTACACTAGATAACTAG c.1593
I S L K D S T L D N X p.530
. . . . . . g.46546
gttgacatacctggaatatagagaacacttgagaagtttgtaatggttttcatttgaaat c.*60
. . . . . . g.46606
agactgctgaaagttttaaatttttataagcataggtttgatgttgaaaacttgttttga c.*120
. . . . . . g.46666
gggagaaaatccctttgttttaaagtaaagtaaacattatcgctaagtgtacttgtgcag c.*180
. . . . . . g.46726
tattaacagctacattatacagtaaatgtgggataaaatccatttagaaaatgttaaact c.*240
. . . . . . g.46786
gcttttccagacatggttgtagcatattttcaattagtgtgtgtatgttaatgtgtaatt c.*300
. . . . . . g.46846
gatagtagaacaaagttacatttttaaaactgctacttgtataaaccttgcctcttttcc c.*360
. . . . . . g.46906
caaatactgtgggttttgtgcatagtttttacaaaccttggatttaccagactgtctttt c.*420
. . . . . . g.46966
cactgtttgtgggttttgtagaagttacacatttttatggtagataaaatgttacttcta c.*480
. . . . . . g.47026
tacaagtactcactccctttttatcaaaagttaattttaatctcacagtctacattgtgc c.*540
. . . . . . g.47086
tacattatccagcttctttggaacaatgtgtgctctgtatggttttttttggtatgacaa c.*600
. . . . . . g.47146
ctaattaagcaactgacatggaactgagaattctacaaactataaaacattaatttttga c.*660
. . . . . . g.47206
aggtaatttagttttgtggctgggcattcagtgaagtcttaggacttctttgcagacaac c.*720
. . . . . . g.47266
tgactgggtatatataggaatgaatctggctttagggttaaatcatttaaggtcctttta c.*780
. . . . . . g.47326
taggcaggcactagtaactaaaactgaaaactaagtaagtttatttttgaggaatgttgt c.*840
. . . . . . g.47386
taaaaatgtctttaggaagtcactaaaacttaattggaagaaaaaatcatgatgcttata c.*900
. . . . . . g.47446
caataaatatgaataaatgttatataaggaaactcacctatttgaaatcatggctatatt c.*960
. . . . . . g.47506
gtttttattttctagattccaaaaatacaaacactagttgttccagcattgtactttgat c.*1020
. . . . . . g.47566
aagtctgtacattgacgtgtatggactaaatccagggtaaaatcaatgttacaaaattta c.*1080
. . . . . . g.47626
agggtatgttaactaaaggatagcatttctaagatattttgaatattagggtcatttggc c.*1140
. . . . . . g.47686
acttctcagcaagtaggatacttctcatgttttgaaattatatgaatatggaaaaaaatg c.*1200
. . . . . . g.47746
gcttaagaccagcgtctctgtatgacattgtgtggttgaccctctgagataactgttttc c.*1260
. . . . . . g.47806
atctacagaattgcatttttgcttttaaagaggtcttataatggaactaggaatcaccgt c.*1320
. . . . . . g.47866
tttgagagaacctgcatatataccagtcattatctgtttggtccttatacagttttaact c.*1380
. . . . . . g.47926
tacttagatttattctagttaagccataagttcaacgtgtaaacttgttttcattaaaga c.*1440
. g.47940
atttttctatcaaa c.*1454
(downstream sequence)
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