(used for variant description)
(last modified March 13, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_015107.2 in the PHF8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering PHF8 transcript NM_015107.2.
(upstream sequence)
. . g.5987
gcggccgccagactaggcccaagcc c.-481
. . . . . . g.6047
gcggtctccagtaggcccgaacggccgggccgaggggaatgttgtggaggaggctgctct c.-421
. . . . . . g.6107
gaagcaccgttgagcggctggcgccgcgcgacccagcggggggctcgaggggaaggcgag c.-361
. . . . . . g.6167
cgaggttcccggcggtacggggactatcccagaattcgacgcgcgtcgccgtaggggccg c.-301
. . . . . . g.6227
gaactaccggacgagcctccgctgaggcgcttcgcagtcccggagctagcccggctgccg c.-241
. . . . . . g.6287
gcgtgtcgctggggctgagctccgcgggcgtggagtccttgcagcccaaagcatgaggag c.-181
. . . . . . g.6347
gtccctgtaggattctggactgaagacgttcttgtcaggtttggggcgtgaggaggttcc c.-121
. . . | 02. . . g.7348
tgtcagttggggaagcgttaagattcct | ctatcgtccagagaggacgcgtgctgccgcct c.-61
. . . . . . g.7408
cccgcccctcttgacacgacgaacctggccggccgcagaacgctccagggccgagcgaag c.-1
. . . . . . g.7468
ATGGCCTCGGTGCCGGTGTATTGCCTCTGCCGGCTGCCTTACGATGTGACCCGCTTCATG c.60
M A S V P V Y C L C R L P Y D V T R F M p.20
. . . | 03 . . g.27315
ATCGAGTGTGACATGTGCCAGGACTGGTTTCATGGCAG | TTGTGTTGGTGTTGAAGAGGAG c.120
I E C D M C Q D W F H G S | C V G V E E E p.40
. . . . . . g.27375
AAGGCTGCTGACATTGACCTCTACCACTGCCCCAACTGTGAAGTCTTGCATGGGCCCTCC c.180
K A A D I D L Y H C P N C E V L H G P S p.60
| 04 . . . . . . g.27825
ATTA | TGAAAAAACGCCGTGGATCTTCAAAGGGGCATGATACACACAAGGGGAAACCAGTG c.240
I M | K K R R G S S K G H D T H K G K P V p.80
. . . . . | 05 . g.32322
AAGACCGGGAGCCCTACGTTCGTCAGAGAGCTCCGGAGTAGGACTTTTGACAG | CTCAGAT c.300
K T G S P T F V R E L R S R T F D S | S D p.100
. . . . . . g.32382
GAAGTGATTCTGAAGCCCACTGGAAATCAACTGACCGTGGAATTCCTGGAAGAAAATAGC c.360
E V I L K P T G N Q L T V E F L E E N S p.120
. . . . . . g.32442
TTCAGTGTGCCCATCCTGGTCCTGAAGAAGGATGGGTTGGGCATGACGCTGCCCTCGCCA c.420
F S V P I L V L K K D G L G M T L P S P p.140
. . . | 06 . . . g.33426
TCATTCACTGTGAGGGATGTTGAACACTATGTTG | GTTCTGACAAAGAGATTGATGTGATT c.480
S F T V R D V E H Y V G | S D K E I D V I p.160
. . . . . . g.33486
GATGTGACCCGCCAGGCTGACTGCAAGATGAAGCTTGGTGATTTTGTGAAATACTATTAC c.540
D V T R Q A D C K M K L G D F V K Y Y Y p.180
. . . . . | 07 . g.35577
AGCGGGAAGAGGGAGAAAGTCCTCAATGTCATTAGTTTGGAATTCTCTGATACCAG | ACTT c.600
S G K R E K V L N V I S L E F S D T R | L p.200
. . . . . . g.35637
TCTAACCTTGTGGAGACACCGAAGATTGTTCGAAAGCTGTCATGGGTCGAAAACTTGTGG c.660
S N L V E T P K I V R K L S W V E N L W p.220
. . . . . . g.35697
CCAGAGGAATGTGTCTTTGAGAGACCCAATGTACAGAAGTACTGCCTCATGAGTGTGCGA c.720
P E E C V F E R P N V Q K Y C L M S V R p.240
. . . . . . g.35757
GATAGCTATACAGACTTTCACATTGACTTTGGTGGCACCTCTGTCTGGTACCATGTACTC c.780
D S Y T D F H I D F G G T S V W Y H V L p.260
| 08 . . . . . . g.38909
AAG | GGTGAAAAGATCTTCTACCTGATCCGCCCAACAAATGCCAATCTGACTCTCTTTGAG c.840
K | G E K I F Y L I R P T N A N L T L F E p.280
. . . . . . g.38969
TGCTGGAGCAGTTCCTCTAATCAGAATGAGATGTTCTTTGGGGACCAGGTGGACAAGTGC c.900
C W S S S S N Q N E M F F G D Q V D K C p.300
. . . . | 09 . . g.47468
TACAAGTGTTCCGTGAAGCAAGGACAGACACTTTTCATTCCCACAG | GGTGGATCCATGCT c.960
Y K C S V K Q G Q T L F I P T G | W I H A p.320
. . . . . . g.47528
GTGCTGACGCCTGTGGACTGCCTTGCCTTTGGAGGGAACTTCTTACACAGCCTTAACATC c.1020
V L T P V D C L A F G G N F L H S L N I p.340
. | 10 . . . . . g.47921
GAGATGCAGCTCAA | AGCCTATGAGATTGAGAAGCGGCTGAGCACAGCAGACCTCTTCAGA c.1080
E M Q L K | A Y E I E K R L S T A D L F R p.360
. . . . . . g.47981
TTCCCCAACTTTGAGACCATCTGTTGGTATGTGGGAAAGCACATCCTGGACATCTTTCGC c.1140
F P N F E T I C W Y V G K H I L D I F R p.380
| 11 . . . . . . g.50234
G | GTTTGCGAGAGAACAGGAGACACCCTGCCTCCTACCTGGTCCATGGTGGCAAAGCCTTG c.1200
G | L R E N R R H P A S Y L V H G G K A L p.400
. . . | 12 . . . g.54381
AACTTGGCCTTTAGAGCCTGGACAAGGAAAGAA | GCTCTGCCAGACCATGAGGATGAGATC c.1260
N L A F R A W T R K E | A L P D H E D E I p.420
. . . . . . g.54441
CCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTG c.1320
P E T V R T V Q L I K D L A R E I R L V p.440
| 13 . . . . . . g.56290
GAA | GACATCTTCCAACAGAACGTTGGGAAGACGAGCAATATCTTTGGGCTGCAGAGGATC c.1380
E | D I F Q Q N V G K T S N I F G L Q R I p.460
. . . . . . g.56350
TTCCCAGCCGGCTCCATTCCCCTAACCAGGCCAGCCCATTCCACTTCAGTGTCCATGTCC c.1440
F P A G S I P L T R P A H S T S V S M S p.480
. . . . . . g.56410
AGGCTGTCACTGCCCTCCAAAAATGGTTCAAAGAAGAAAGGCCTGAAGCCCAAGGAACTC c.1500
R L S L P S K N G S K K K G L K P K E L p.500
. . . . . . g.56470
TTCAAGAAGGCAGAGCGAAAGGGCAAGGAGAGTTCAGCCTTGGGGCCTGCTGGCCAGTTG c.1560
F K K A E R K G K E S S A L G P A G Q L p.520
. . . . . . g.56530
AGCTATAATCTCATGGACACATACAGTCATCAGGCACTGAAGACAGGCTCTTTCCAGAAA c.1620
S Y N L M D T Y S H Q A L K T G S F Q K p.540
| 14 . . . . . . g.57351
GCAAAG | TTCAACATCACTGGTGCCTGCTTGAATGACTCAGATGACGACTCACCAGACTTG c.1680
A K | F N I T G A C L N D S D D D S P D L p.560
. . . . . | 15 . g.62202
GACCTTGATGGAAATGAGAGCCCATTGGCCCTATTGATGTCTAACGGCAG | TACGAAAAGG c.1740
D L D G N E S P L A L L M S N G S | T K R p.580
. . . . . . g.62262
GTGAAGAGTTTATCCAAATCTCGGCGAACCAAGATAGCAAAGAAGGTAGACAAGGCTAGG c.1800
V K S L S K S R R T K I A K K V D K A R p.600
. . . . . . g.62322
CTGATGGCAGAACAGGTGATGGAAGACGAATTTGACTTGGATTCAGATGATGAGCTGCAG c.1860
L M A E Q V M E D E F D L D S D D E L Q p.620
. . . . | 16 . g.62984
ATTGACGAGAGATTGGGAAAGGAGAAGGCGACCCTGATAATAAGACCAA | AATTTCCCCGG c.1920
I D E R L G K E K A T L I I R P K | F P R p.640
. . . . . . g.63044
AAATTGCCCCGTGCGAAGCCTTGCTCTGACCCCAACCGAGTTCGTGAACCAGGAGAAGTT c.1980
K L P R A K P C S D P N R V R E P G E V p.660
. | 17 . . . . . g.64232
GAGTTTGACATTGAG | GAGGACTATACAACAGATGAGGACATGGTGGAAGGGGTTGAAGGC c.2040
E F D I E | E D Y T T D E D M V E G V E G p.680
. . . . . . g.64292
AAGCTTGGGAATGGTAGTGGCGCTGGTGGCATTCTTGATCTGCTCAAGGCCAGCAGGCAG c.2100
K L G N G S G A G G I L D L L K A S R Q p.700
. . | 18 . . . g.64940
GTGGGGGGACCTGACTATGCTGCCCTCAC | CGAGGCCCCAGCTTCTCCCAGCACTCAGGAG c.2160
V G G P D Y A A L T | E A P A S P S T Q E p.720
. . . . . . g.65000
GCCATCCAGGGCATGCTGTGCATGGCCAACCTGCAGTCCTCATCGTCCTCACCGGCTACC c.2220
A I Q G M L C M A N L Q S S S S S P A T p.740
. . . . . . g.65060
TCTAGCCTGCAGGCCTGGTGGACTGGGGGACAGGATCGAAGCAGTGGGAGCTCCAGCAGT c.2280
S S L Q A W W T G G Q D R S S G S S S S p.760
. . . . . . g.65120
GGGCTGGGCACAGTGTCTAACAGTCCTGCTTCCCAGCGCACCCCAGGGAAGCGGCCCATC c.2340
G L G T V S N S P A S Q R T P G K R P I p.780
. . . . . . g.65180
AAGCGGCCAGCATACTGGAGAACCGAGAGCGAGGAGGAGGAGGAGAACGCCAGTCTGGAT c.2400
K R P A Y W R T E S E E E E E N A S L D p.800
. . . . | 19 . . g.87214
GAACAGGACAGCTTGGGAGCGTGCTTCAAGGATGCAGAGTATA | TCTATCCTTCACTGGAG c.2460
E Q D S L G A C F K D A E Y I | Y P S L E p.820
. . . . . . g.87274
TCTGATGATGATGACCCTGCTTTGAAATCTCGACCCAAGAAAAAGAAGAATTCAGATGAT c.2520
S D D D D P A L K S R P K K K K N S D D p.840
. | 20 . . . . g.105934
GCTCCATGGAGTCCTAAAG | CCCGCGTGACCCCAACTCTGCCGAAGCAGGACCGTCCTGTG c.2580
A P W S P K A | R V T P T L P K Q D R P V p.860
. . . . . . g.105994
CGTGAGGGGACCCGGGTAGCCTCTATTGAGACAGGTTTGGCTGCAGCAGCTGCAAAGCTG c.2640
R E G T R V A S I E T G L A A A A A K L p.880
| 21 . . . . . g.109671
GCCCAGCAG | GAGCTACAGAAGGCCCAAAAGAAGAAATATATCAAGAAGAAGCCTTTGCTG c.2700
A Q Q | E L Q K A Q K K K Y I K K K P L L p.900
. . . . . . g.109731
AAGGAGGTAGAACAGCCTCGCCCTCAAGACTCCAATCTCAGTCTGACAGTACCAGCCCCC c.2760
K E V E Q P R P Q D S N L S L T V P A P p.920
. . . . . . g.109791
ACTGTGGCTGCCACACCACAACTTGTCACCTCCTCCTCACCCCTGCCTCCTCCTGAGCCT c.2820
T V A A T P Q L V T S S S P L P P P E P p.940
. . . . . . g.109851
AAACAAGAGGCCCTGTCAGGAAGTCTCGCTGACCATGAGTACACCGCTCGTCCCAATGCC c.2880
K Q E A L S G S L A D H E Y T A R P N A p.960
. . . . . . g.109911
TTTGGCATGGCCCAGGCAAACCGCAGCACCACACCTATGGCCCCCGGTGTCTTCTTGACC c.2940
F G M A Q A N R S T T P M A P G V F L T p.980
. . . . | 22 . . g.110904
CAGCGGCGCCCTTCAGTTGGCTCCCAGAGCAATCAGGCAGGACAAG | GAAAGCGTCCCAAA c.3000
Q R R P S V G S Q S N Q A G Q G | K R P K p.1000
. . . . . . g.110964
AAGGGCCTGGCCACAGCAAAGCAGAGACTCGGCCGTATCCTGAAAATCCACAGAAATGGC c.3060
K G L A T A K Q R L G R I L K I H R N G p.1020
. g.110979
AAACTACTTCTGTGA c.3075
K L L L X p.1024
. . . . . . g.111039
gccctcctgtgtcccacccctcacccctttacccccattgccttctccattgtcaactct c.*60
. . . . . . g.111099
tggggcactcctggatcctatctgccctggacaaggtgctgaggtgcattgtcctgcttt c.*120
. . . . . . g.111159
cttgggacttaccaaaggcacggacccctccaccgactccttctagttcccttccccact c.*180
. . . . . . g.111219
ttcactagagcatcctgcctgccttctccactgaggagcaggtaaatgggagaggtttcc c.*240
. . . . . . g.111279
agctgactagaaccctcttttctactcgtccaaaccactcccgtcacctgccttgtctgt c.*300
. . . . . . g.111339
tctttattcttcatcccccgctagagctggaaggcaggatgaggagaggtatgaaggagc c.*360
. . . . . . g.111399
ctgagccatgaagtgggaagcccagtgcttgacactttctgcaactctagccctatatcc c.*420
. . . . . . g.111459
agaagcctgcccacctccacccattctgtttgccccatttccccagtccagtggacatgc c.*480
. . . . . . g.111519
cccacctccagacttgctcatgggagaaggctgtggtctctgccccctcttgccaaatgc c.*540
. . . . . . g.111579
ttcatggaaatgaagaggaaggcctagagcctccttcctgccccactgtgggccatttcc c.*600
. . . . . . g.111639
agaagtggcctagaaatgccaacttcacttacctttcaaaagaaaggtgattcctatcac c.*660
. . . . . . g.111699
ttgtcaaggtagggagaggtcagatgcccaagcctttgaccacggttttgtagcctgttg c.*720
. . . . . . g.111759
gaggaagctacttttagctggctacacatgaggccacttgttttagggtgagctccaggg c.*780
. . . . . . g.111819
atttgcctggattttgaaatcatgtagaacattatccacgtggctgtggctgtggctgtg c.*840
. . . . . . g.111879
gctgggccctggcaggtggaaaaccatctcccagaaacctgaaagcacctgccaatgacg c.*900
. . . . . . g.111939
cagataaccctggccctacagcctgcttgctccgcctataccacagagcacagcctggac c.*960
. . . . . . g.111999
attatggagggtgtggcgggacggcccacacctgggtcctccatcgggaacttttcatgc c.*1020
. . . . . . g.112059
ttctttctccacctgaggtcttggtctgaagaagacctcaggactcacatcttcactcct c.*1080
. . . . . . g.112119
gggcctttgcacttccagacgacaggtcatcgttcaagcagaatgcagacaggccattca c.*1140
. . . . . . g.112179
cgagcccaagttgaagagaagagacgcccatccgtgaaggagcagaccatccatccgatc c.*1200
. . . . . . g.112239
ctccccttcccctgtccttccttcgtggattgtctccattgtccagacagtgcccccacc c.*1260
. . . . . . g.112299
tcccaccgccttgcctcactggcaatctggactcgatggagaacatccccccacctccat c.*1320
. . . . . . g.112359
ttggcactacccaagtggagtgtacccttgccctttccacctgtaccacccactccaacc c.*1380
. . . . . . g.112419
tcaccccagcttgcccaatgcttctggggaatttaatagctaccatgcaggccacaggga c.*1440
. . . . . . g.112479
atttgtgaggcttcttttgtcatctttgtatctccagtttgtctttcttttctccatagc c.*1500
. . . . . . g.112539
cctgcctctactttccttccttggaatcaggggttcctttagcccatttgctttctctac c.*1560
. . . . . . g.112599
cttggggaccccaggggccaagcagttctccatctagtcacaccaaaggcaaaaagcctg c.*1620
. . . . . . g.112659
gctacctcccccctagcacgtgagtccctactcccctcccctctgtttctgcccagcttt c.*1680
. . . . . . g.112719
gcttattttggggatttcaaggcagcagagggtagtgaggggagagcaggagaagcctct c.*1740
. . . . . . g.112779
gtcctgtataggcaactgcctgactatgcggtgactgctgtaaccaagatcaggtcccca c.*1800
. . . . . . g.112839
gcccttttgtccattaacaccccttcttgatctttcaaaggcagctaattgctagcaaat c.*1860
. . . . . . g.112899
ccccccgattccggccttttccctctatttctttgttagaagttttctgtggagctgaaa c.*1920
. . . . . . g.112959
cccagcctctgtttgactgggtttcatttagcttagttgggttcttagagccccctgttt c.*1980
. . . . . . g.113019
gttgttttgtgttgtttccaatgaaaagcaagtttaccctcagagttatgcttttccaaa c.*2040
. . . . . . g.113079
gaggctgatgtctttgtttttgttttttttaatgtttcaggttctaagtgaagtgagttg c.*2100
. . . . . . g.113139
gggaggggttgggagtgttagtaatcaaggtttagaacaccatgagatagttacccctga c.*2160
. . . . . . g.113199
tctccagtccctagctgggggctggacagggggaagggagagaggatttctattcacctt c.*2220
. . . . . . g.113259
taatatatttttacaaaaaaagcaaacaatttaaaaacaagcccaccgcttctgtacatg c.*2280
. . . . . . g.113319
tctaaatatatttttagaagtgggtaggattgtgaatttctgatgcagggcctttttata c.*2340
. . . . . . g.113379
aataggttagggtagcatcattcagacttctctgttgtttttgtccctgtctttttctta c.*2400
. . . . . . g.113439
tgttgtgttactaatgtaatttatattttttttagatcctccctttcctatagagataaa c.*2460
. g.113457
agtgatttatcttggcaa c.*2478
(downstream sequence)
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