(used for variant description)
(last modified November 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001015877.1 in the PHF6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008886.1, covering PHF6 transcript NM_001015877.1.
(upstream sequence)
. . g.5022
aagggcgctccgcgagcccgtc c.-181
. . . . . . g.5082
tctcctcgaatgaaaggaaacaacctccggcgacagagccccgctctcaggcactgctgg c.-121
. . . . . . g.5142
agaaccgagaccgacttctttctctttaccctcattggcgcttctctcctgcagtccgcc c.-61
. . | 02 . . . . g.9306
tctgggccctgccg | catttcttgagacttaaagtggcattctaaaggcaatttaaaaatc c.-1
. . . . . . g.9366
ATGTCAAGCTCAGTTGAACAGAAAAAAGGGCCTACAAGACAGCGCAAATGTGGCTTTTGT c.60
M S S S V E Q K K G P T R Q R K C G F C p.20
. . . . . . g.9426
AAGTCAAATAGAGACAAGGAATGTGGACAGTTACTAATATCTGAAAACCAGAAGGTGGCA c.120
K S N R D K E C G Q L L I S E N Q K V A p.40
. | 03 . . . . g.9735
GCGCACCATAAGTGCATG | CTCTTTTCATCTGCTTTGGTATCATCACACTCTGATAATGAA c.180
A H H K C M | L F S S A L V S S H S D N E p.60
. . . . . . g.9795
AGTCTTGGTGGATTTTCTATTGAAGATGTCCAAAAGGAAATTAAAAGAGGCACGAAGCTG c.240
S L G G F S I E D V Q K E I K R G T K L p.80
| 04 . . . . . . g.25249
| ATGTGTTCTTTGTGCCATTGTCCTGGAGCAACAATTGGTTGTGATGTGAAAACATGTCAC c.300
| M C S L C H C P G A T I G C D V K T C H p.100
. . . . . . g.25309
AGGACATACCACTACCACTGTGCATTGCATGATAAAGCTCAAATACGAGAGAAACCTTCA c.360
R T Y H Y H C A L H D K A Q I R E K P S p.120
. | 05 . . . . | 06 g.45181
CAAGGAATTTACAT | GGTCTATTGCCGAAAACACAAGAAAACTGCACATAACTCCGAAG | CT c.420
Q G I Y M | V Y C R K H K K T A H N S E A | p.140
. . . . . . g.45241
GATTTAGAAGAAAGTTTTAATGAACATGAACTGGAGCCCTCATCACCTAAAAGTAAAAAG c.480
D L E E S F N E H E L E P S S P K S K K p.160
. . . . . . g.45301
AAAAGTCGCAAAGGAAGGCCAAGAAAAACTAATTTTAAAGGGCTGTCAGAAGATACCAGG c.540
K S R K G R P R K T N F K G L S E D T R p.180
. . . . | 07 . . g.45526
TCCACATCCTCCCATGGAACAGATGAAATGGAAAGTAGTTCCTAT | AGAGATAGGTCTCCA c.600
S T S S H G T D E M E S S S Y | R D R S P p.200
. . . . . . g.45586
CACAGAAGCAGCCCTAGTGACACCAGGCCTAAATGTGGATTTTGCCATGTAGGGGAGGAA c.660
H R S S P S D T R P K C G F C H V G E E p.220
. . . . . . g.45646
GAAAATGAAGCACGAGGAAAACTGCATATATTTAATGCCAAGAAGGCAGCTGCCCATTAT c.720
E N E A R G K L H I F N A K K A A A H Y p.240
| 08 . . . . . g.46755
AAGTGCATG | TTGTTTTCTTCTGGCACAGTCCAGCTCACAACAACATCAAGAGCAGAATTT c.780
K C M | L F S S G T V Q L T T T S R A E F p.260
. . . . . | 09 . g.48863
GGAGACTTTGATATTAAAACTGTACTTCAGGAGATTAAACGAGGAAAAAGAATG | AAATGT c.840
G D F D I K T V L Q E I K R G K R M | K C p.280
. . . . . . g.48923
ACACTTTGCAGTCAGCCTGGTGCTACTATTGGATGTGAAATAAAAGCCTGTGTTAAGACT c.900
T L C S Q P G A T I G C E I K A C V K T p.300
. . . . . . g.48983
TACCATTACCACTGTGGAGTACAAGACAAAGCTAAATACATTGAAAATATGTCACGAGGA c.960
Y H Y H C G V Q D K A K Y I E N M S R G p.320
| 10 . . . . . g.56941
ATTTACAA | ACTATACTGTAAAAATCATAGTGGAAATGATGAGAGAGATGAAGAAGATGAG c.1020
I Y K | L Y C K N H S G N D E R D E E D E p.340
. . . . . . g.57001
GAACGAGAGAGTAAAAGCCGAGGAAAAGTAGAAATTGATCAGCAACAACTAACTCAGCAG c.1080
E R E S K S R G K V E I D Q Q Q L T Q Q p.360
. g.57019
CAACTTAATGGAAACTAG | c.1099
Q L N G N X p.365
| 11 . . . . . . g.57409
| gttcatgggacagagttagaaaactgggaatgaataagacatccataactactattcttt c.*60
. . . . . . g.57469
tttcactgttttctaaaatcaaaaagggtttgtaactttttactgcccaactcttagatc c.*120
. . . . . . g.57529
cttcattgaactgcctaaaaatgtcttgtttgttttatgagccctcactagaaggctgag c.*180
. . . . . . g.57589
tttgacatgttgatattacgtagctatagtttgcagtttctgggaagcaattgaaacact c.*240
. . . . . . g.57649
attaaccctgtgtatagtgtcaacagttaaagcagacgaaacgaagtaagctatatttct c.*300
. . . . . . g.57709
ggactgaacaaagctctgctgtttagagcatttaagtttgtttagtggatccatactcaa c.*360
. . . . . . g.57769
aggaaagcataagcaaattttcctttacaatgcaaacatgccactggtggcagcacatgg c.*420
. . . . . . g.57829
taatttgtggatttttttttcatactcaagtaatggaggctagaaatgaagagaaccttc c.*480
. . . . . . g.57889
tttttctcttgactttgacagcacatgctaaaaatctcttccaagaagtatgctaaagct c.*540
. . . . . . g.57949
tttcatttggttcctgttaaagttgttctcactgaccagcatggactcaggcaactggta c.*600
. . . . . . g.58009
atgataagctatgagctccagtgcttttgccaaaattctcttgacagcacacctcctctc c.*660
. . . . . . g.58069
tttccatgttatacaaaggacttctggcaaaatgattgagtccttcaagtttaaactaac c.*720
. . . . . . g.58129
atttggcaacagcaaattaaacgtttttaagatgtaaagaaagggttaccgcttgctaag c.*780
. . . . . . g.58189
gacttcagacaccatgtccgaaacctgttcctctcaagtgccctgttgtgtggaacactt c.*840
. . . . . . g.58249
cacatattggcgcacagtacgtaaggaggtctcatgtgctgtaggagtaaaaaagtcttt c.*900
. . . . . . g.58309
gcataaaacagtatttatttttacttttgtgaccactattttagaaactttatttaatat c.*960
. . . . . . g.58369
tttaatgttttcagtcattgctttggttatctataaaataggcttttgtgccctactttt c.*1020
. . . . . . g.58429
cttcttgtagggcttggtggtgttttatcgattgtcagaattgtttttgaaagcctaaga c.*1080
. . . . . . g.58489
acccagctttttagaaaggattttcacactggcatttctaggtagtgatattttcttcca c.*1140
. . . . . . g.58549
cttacctgctgaagcacatttatgcatttctttatggcaaaaccaaataactttagttgt c.*1200
. . . . . . g.58609
ggtctgcctgatactaccatagcacctcagtaccaaggggagggattttgactagttgaa c.*1260
. . . . . . g.58669
ttattaagccaccacaataaagcagatttttaaataagaaataataatgttaacttgact c.*1320
. . . . . . g.58729
gtacattgagatattctgcagctgatagagcagcattttaaaaatgtaacaggtggaaaa c.*1380
. . . . . . g.58789
ttacactgtgcttaatgactgatttttttttaaactgcgagtcccttaagatcacgtttg c.*1440
. . . . . . g.58849
tcaagtgtgtattcacacatttacttaaatcaagggactcaatgcttgcttttattttaa c.*1500
. . . . . . g.58909
ccatcttttactatttttagaaggaaactagctttagtagtgggttgccctgtatgtttt c.*1560
. . . . . . g.58969
ctctttttgctcttaatatgccattgggtttttgtgtgtatgtgattttcaaaattcatg c.*1620
. . . . . . g.59029
acttgaagtgcaaggacagatctagatgtttgtttaccaagctatgtgacttctcccaaa c.*1680
. . . . . . g.59089
ggatctgtactttctttccttacaacagcttgaaaatcattattttaaaatccttaaatc c.*1740
. . . . . . g.59149
actgtgtctagatcattttttacattgtgtgccatagacttacccatgggacaacagagc c.*1800
. . . . . . g.59209
tccttcatttttggacaactactgtaatcattttttttttaggaaaaatggaaggtgccg c.*1860
. . . . . . g.59269
ggggtaatcatggccagtcaataattatataaaggagttcaaatactatagctgtcagtt c.*1920
. . . . . . g.59329
gatgaatttgttatgtagtaaaatgtatgactttgtatgggtttcttcagccctttttct c.*1980
. . . . . . g.59389
gccactagcaaccagaatagcactttaccttttggttggctagataagtggctgactacc c.*2040
. . . . . . g.59449
tgtttttctcactgtggtgtgattggctaaacaatctcgcattaaaaattcaaatgtaaa c.*2100
. . . . . . g.59509
ttgaattcacatgaaaaatcatgtttggttgtaaacctccaatgttttgattctctaatc c.*2160
. . . . . . g.59569
atgttttcgtcacatgctgagtaaaagtgccttacaatgtaaaaattgtacagtacttat c.*2220
. . . . . . g.59629
gttcccaagtagcatcatcatcttctgggtagtaattacattgtggtattaatatttaga c.*2280
. . . . . . g.59689
aaaatggacctcagcagtgtatttactgtacatctcttaagtccttaactgtagttttaa c.*2340
. . . . . . g.59749
taagcatgacattatttgataagtatataacatttacatcatttcaaaaaatactgccgt c.*2400
. . . . . . g.59809
tactgtcttttatgcatattttagcctgaaattttgaagcgtcttttttctttctttttt c.*2460
. . . . . . g.59869
ctttttttgttttgttttttgttattgatattaaacagtgtaatctttgcaagcgtatat c.*2520
. . . . . . g.59929
tgaagattattctggagcatttattgccttaccagaaatgttagtaggaaatgttcttta c.*2580
. . . . . . g.59989
gagtagaaagatagacttgagtttctatacttttaagaagagctctttgttcctggggga c.*2640
. . . . . . g.60049
ggggggcagggggtgaattttactttcatctcaagttattaaaaacccacaactgaagta c.*2700
. . . . . . g.60109
aattttatttcaagaatcagcagttttagaatttcagatagtacttgctcagaagtacat c.*2760
. . . . . . g.60169
gctactcaagatattaagagataacaagatctgtagatctgctattgaatcagaatctgt c.*2820
. . . . . . g.60229
gtacttgaacaaatgtgtgaatctcaaatatctcaaagcaaaagaaaaagtgttctagag c.*2880
. . . . . . g.60289
tgttgttgcttttttaaaaaaagcgctgaagttagaccaaggtatacagttttgttctaa c.*2940
. . . . . . g.60349
cagacatttaggttaattgtaaagataaggaatgcattatgggtcaaaaatcaaacattc c.*3000
. . . . . . g.60409
ctctcatgttatgtatattttgttcctgttatattggctttattttcaaaattgtagttt c.*3060
. . . . . . g.60469
gtagtattagtttccttttattggtattcttgcatatactattcattcaataaatgactt c.*3120
. g.60481
atgactttcata c.*3132
(downstream sequence)
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