(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001040667.2 in the HSF4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009294.1, covering HSF4 transcript NM_001040667.2.
(upstream sequence)
g.5005
agatg c.-961
. . . . . . g.5065
cacgcgcgtccccgctgcccaacgaagcctgggtcgcgttgcgccgccgccaccctgggc c.-901
. . . . . . g.5125
tggcagtggagctggagctggagcccgcgctgcccgctgagagcgtgacgcgcgtcctgc c.-841
. . . . . . g.5185
agccagccgtccccgtggctgcgctgcgcctcaacctctcaggcgacaccgtaggcccag c.-781
. . . . . . g.5245
tgcgcttcgcagcacaccactacgccgcaaccctgtgcgcgctcgaggtgcgcgcagccg c.-721
. . . . . . g.5305
cttcggccgagctgaacgccgcgctggaggagctggcggcgcgctgcgcggccctgcgcg c.-661
. . . . . . g.5365
aggtgcattgtttctgcgtggtgagccactcggtgctggacgccttccgcgcgcactgcc c.-601
. . . . . . g.5425
cgcgcctgcgcacctataccctcaagctcacgcgcgagccgcatccctggaggcctacgc c.-541
. . . . . | 02 . g.5651
tcgtggcgtgattgggcgacttctctcccccgtccccgtggac | acgccccacccgctcgg c.-481
. . . . . . g.5711
tcctggacacactgcccccctctcttgcctccacccctctgcggactctgcagctccgcg c.-421
. . . . . | 03 g.6067
gccccggcgcagggagagggagggcacgggcgcgggccgggcctcaagg | gacttgcccag c.-361
. . . . . . g.6127
cccacaccaggtcgcgcaccggcgatttctcctgtagaacaaagaaggaaatagagggac c.-301
. . . . . . g.6187
cgagaggggtgggactcgaacccaagtctcccactcatctcaccccaccccaccccactc c.-241
. . . . . . g.6247
caccccaccccacccctccactccactccactccacacatcccatccagccagccttttc c.-181
. . . . . . g.6307
tgcctgctggtgcctcggccgctgtccgagccccgccccgcgggcttgcacgtggccccc c.-121
. . . . . . g.6367
gcctgacccggcgccccggggcggagtagggcggagcgggcggcaaacgcagcactttcc c.-61
. . . . . . g.6427
gcggctttgacgagcccgcagcggccgggcccgagcgcagagccgggccgagactgcacc c.-1
. . . . . . g.6487
ATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTC c.60
M Q E A P A A L P T E P G P S P V P A F p.20
. . . . . . g.6547
CTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGC c.120
L G K L W A L V G D P G T D H L I R W S p.40
| 04 . . . . . . g.7194
CCG | AGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCC c.180
P | S G T S F L V S D Q S R F A K E V L P p.60
. . . . . | 05 . g.7342
CAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGT | ACGGTTTT c.240
Q Y F K H S N M A S F V R Q L N M Y | G F p.80
. . . . . . g.7402
CGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAG c.300
R K V V S I E Q G G L L R P E R D H V E p.100
. . . . . . g.7462
TTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAG c.360
F Q H P S F V R G R E Q L L E R V R R K p.120
| 06 . . . . . . g.7621
| GTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTG c.420
| V P A L R G D D G R W R P E D L G R L L p.140
. . . . . . g.7681
GGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTC c.480
G E V Q A L R G V Q E S T E A R L R E L p.160
| 07 . . . . . . g.7990
AGGCA | GCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAG c.540
R Q | Q N E I L W R E V V T L R Q S H G Q p.180
. . | 08 . . . . g.8212
CAGCACCGGGTCATTGGCAAG | CTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCG c.600
Q H R V I G K | L I Q C L F G P L Q A G P p.200
. . | 09 . . . . g.8769
AGCAATGCAGGAGGCAAGAGAAAGCT | GTCCCTGATGCTGGATGAGGGGAGCTCATGCCCA c.660
S N A G G K R K L | S L M L D E G S S C P p.220
. . . . . . g.8829
ACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTC c.720
T P A K F N T C P L P G A L L Q D P Y F p.240
| 10 . . . . . g.9141
ATCCAGTCG | CCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCC c.780
I Q S | P L P E T N L G L S P H R A R G P p.260
. . . . . . g.9201
ATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCC c.840
I I S D I P E D S P S P E G T R L S P S p.280
. | 11 . . . . . g.9381
AGTGATGGCAGGAG | GGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGG c.900
S D G R R | E K G L A L L K E E P A S P G p.300
. . . . . . g.9441
GGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCC c.960
G D G E A G L A L A P N E C D F C V T A p.320
. . . . . . g.9501
CCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAGGGAGCTTCAGC c.1020
P P P L P V A V V Q A I L E G K G S F S p.340
. . . . . . g.9561
CCCGAGGGGCCCAGGAATGCCCAACAGCCTGAACCAGGGGATCCCAGGGAGATACCTGAC c.1080
P E G P R N A Q Q P E P G D P R E I P D p.360
| 12 . . . . . . g.10504
AG | GGGGCCTCTGGGCCTGGAAAGCGGGGACAGGAGCCCAGAGAGTCTGCTGCCTCCGATG c.1140
R | G P L G L E S G D R S P E S L L P P M p.380
. . . . | 13 . g.10663
CTGCTTCAGCCCCCTCAAGAAAGTGTGGAACCTGCAGGGCCTCTAGAT | GTGCTGGGCCCC c.1200
L L Q P P Q E S V E P A G P L D | V L G P p.400
. . . . . | 14 . g.10900
AGTCTCCAAGGGCGAGAATGGACCCTGATGGACTTGGACATGGAGCTGTCCTTG | ATGCAG c.1260
S L Q G R E W T L M D L D M E L S L | M Q p.420
. . . . . . g.10960
CCCTTGGTTCCAGAGCGGGGTGAGCCTGAGCTGGCGGTCAAGGGGTTAAATTCTCCAAGC c.1320
P L V P E R G E P E L A V K G L N S P S p.440
| 15 . . . . . . g.11302
CCAG | GGAAGGACCCCACGCTCGGGGCCCCACTCCTGCTGGATGTCCAGGCGGCCTTGGGA c.1380
P G | K D P T L G A P L L L D V Q A A L G p.460
. . . . . . g.11362
GGCCCAGCCCTGGGCCTGCCTGGGGCTTTAACCATTTATAGCACTCCTGAGAGCCGGACT c.1440
G P A L G L P G A L T I Y S T P E S R T p.480
. . . g.11401
GCCTCCTACTTGGGCCCGGAAGCCAGTCCCTCCCCCTAA c.1479
A S Y L G P E A S P S P X p.492
. . . . . . g.11461
gaccccgcgcctctgaaggggcttggaaccagtccgccgctgcacatccttcttggcttc c.*60
. . . . . . g.11521
ctggcgccccctatcgggggtgagcgaagcccccactactaaatggcctctctccactac c.*120
. . . . g.11561
cccgactatccctgcacataaactccgttttttttttttc c.*160
(downstream sequence)
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