(used for variant description)
(last modified December 30, 2019)
This file was created to facilitate the description of sequence variants in the FHL1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was generated from NG_015895.1, covering FHL1 transcript variant 1 NM_001159702.2.
Several transcripts use an alternative promoter/exon 1; variant 8 upstream (exon 1a, NR_027621.1), variant 3 from intron 1 (exon 1b, NM_001159700.1), variant 4 from intron 1 (exon 01c, NM_001159704.1), variant 9 from intron 1 (exon 1d, NM_001167819.1), variant 5 from intron 2 (exon 2b, NM_001159701.1) and variant 7 from intron 2 (exon 2c, NM_001159699.1). All of these contain skip exon 7 and encode a different C-terminus. Transcript variant 2 (NM_001449.4) skips exon7, variant 6 (NM_001159703.1) exon 6 and 7.
Please note that introns are available by clicking on the exon numbers above the sequence. (upstream sequence)
. . g.5727
cccgcccctggctagccgcgcccgccccc c.-301
alternative promoters ^
. . . . . . g.5787
gcgctcctgcttcctcccctctttccctccccgcctcccaggcgcgcacccctcccctcg c.-241
. . . . . . g.5847
cgcccctcccgcgccctacatccaccgcccggcggagggggctcagtccgcagccgccgc c.-181
. . . . . . g.5907
cgccaccgccgcgcctcggcctcggtgcaggcagcggccgccgccgccgagacagctgcg c.-121
. . | 02 . . . g.28245
cgggcgagcatccccacgca | gcaccttggaagttgttttcaaccatatccagcctttgcc c.-61
^ alternative promoters
. . . . | 03 . . g.64731
gaatacatcctatctgccacacatccagcgtgag | gtccctccagctacaaggtgggcacc c.-1
P S S Y K V G T p.1-1
alternative promoters ^ (with alternative translation initiation start)
. . . . . . g.64791
ATGGCGGAGAAGTTTGACTGCCACTACTGCAGGGATCCCTTGCAGGGGAAGAAGTATGTG c.60
M A E K F D C H Y C R D P L Q G K K Y V p.20
. . . . . . g.64851
CAAAAGGATGGCCACCACTGCTGCCTGAAATGCTTTGACAAGTTCTGTGCCAACACCTGT c.120
Q K D G H H C C L K C F D K F C A N T C p.40
. . . | 04 . . . g.65338
GTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAG | GAGGTGCACTATAAGAACCGCTTC c.180
V E C R K P I G A D S K | E V H Y K N R F p.60
. . . . . . g.65398
TGGCATGACACCTGCTTCCGCTGTGCCAAGTGCCTTCACCCCTTGGCCAATGAGACCTTT c.240
W H D T C F R C A K C L H P L A N E T F p.80
. . . . . . g.65458
GTGGCCAAGGACAACAAGATCCTGTGCAACAAGTGCACCACTCGGGAGGACTCCCCCAAG c.300
V A K D N K I L C N K C T T R E D S P K p.100
. . . | 05 . . . g.66119
TGCAAGGGGTGCTTCAAGGCCATTGTGGCAG | GAGATCAAAACGTGGAGTACAAGGGGACC c.360
C K G C F K A I V A G | D Q N V E Y K G T p.120
. . . . . . g.66179
GTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGC c.420
V W H K D C F T C S N C K Q V I G T G S p.140
. . . . . . g.66239
TTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAG c.480
F F P K G E D F Y C V T C H E T K F A K p.160
. . | 06 . . . . g.66792
CATTGCGTGAAGTGCAACAAG | GCCATCACATCTGGAGGAATCACTTACCAGGATCAGCCC c.540
H C V K C N K | A I T S G G I T Y Q D Q P p.180
. . . . . . g.66852
TGGCATGCCGATTGCTTTGTGTGTGTTACCTGCTCTAAGAAGCTGGCTGGGCAGCGTTTC c.600
W H A D C F V C V T C S K K L A G Q R F p.200
. . . . . . g.66912
ACCGCTGTGGAGGACCAGTATTACTGCGTGGATTGCTACAAGAACTTTGTGGCCAAGAAG c.660
T A V E D Q Y Y C V D C Y K N F V A K K p.220
. . | 07 . . . g.67573
TGTGCTGGATGCAAGAACCCCATCACTG | GGAAAAGGACTGTGTCAAGAGTGAGCCACCCA c.720
C A G C K N P I T G | K R T V S R V S H P p.240
^ alternatively spliced
. . . . . . g.67633
GTCTCTAAAGCTAGGAAGCCCCCAGTGTGCCACGGGAAACGCTTGCCTCTCACCCTGTTT c.780
V S K A R K P P V C H G K R L P L T L F p.260
. . . . . . g.67693
CCCAGCGCCAACCTCCGGGGCAGGCATCCGGGTGGAGAGAGGACTTGTCCCTCGTGGGTG c.840
P S A N L R G R H P G G E R T C P S W V p.280
. . . . | 08 . g.68181
GTGGTTCTTTATAGAAAAAATCGAAGCTTAGCAGCTCCTCGAGGCCCG | GGTTTGGTAAAG c.900
V V L Y R K N R S L A A P R G P | G L V K p.300
different C-terminus isoform-1 F G K G p.230+4
. . . . . . g.68241
GCTCCAGTGTGGTGGCCTATGAAGGACAATCCTGGCACGACTACTGCTTCCACTGCAAAA c.960
A P V W W P M K D N P G T T T A S T A K p.320
. g.68253
AATGCTCCGTGA c.972
N A P X p.323
. . . . . . g.68313
atctggccaacaagcgctttgttttccaccaggagcaagtgtattgtcccgactgtgcca c.*60
. . . . . . g.68373
aaaagctgtaaactgacaggggctcctgtcctgtaaaatggcatttgaatctcgttcttt c.*120
. . . . . . g.68433
gtgtccttactttctgccctataccatcaataggggaagagtggtccttcccttctttaa c.*180
. . . . . . g.68493
agttctccttccgtcttttctcccattttacagtattactcaaataagggcacacagtga c.*240
. . . . . . g.68553
tcatattagcatttagcaaaaagcaaccctgcagcaaagtgaatttctgtccggctgcaa c.*300
. . . . . . g.68613
tttaaaaatgaaaacttaggtagattgactcttctgcatgtttctcatagagcagaaaag c.*360
. . . . . . g.68673
tgctaatcatttagccacttagtgatgtaagcaagaagcataggagataaaacccccact c.*420
. . . . . . g.68733
gagatgcctctcatgcctcagctgggacccaccgtgtagacacacgacatgcaagagttg c.*480
. . . . . . g.68793
cagcggctgctccaactcactgctcaccctcttctgtgagcaggaaaagaaccctactga c.*540
. . . . . . g.68853
catgcatggtttaacttcctcatcagaactctgcccttccttctgttcttttgtgctttc c.*600
. . . . . . g.68913
aaataactaacacgaacttccagaaaattaacatttgaacttagctgtaattctaaactg c.*660
. . . . . . g.68973
acctttccccgtactaacgtttggtttccccgtgtggcatgttttctgagcgttcctact c.*720
. . . . . . g.69033
ttaaagcatggaacatgcaggtgatttgggaagtgtagaaagacctgagaaaacgagcct c.*780
. . . . . . g.69093
gtttcagaggaacatcgtcacaacgaatacttctggaagcttaacaaaactaaccctgct c.*840
. . . . . . g.69153
gtcctttttattgtttttaattaatatttttgttttaattgatagcaaaatagtttatgg c.*900
. . . . . . g.69213
gtttggaaacttgcatgaaaatattttagccccctcagatgttcctgcagtgctgaaatt c.*960
. . . . . . g.69273
catcctacggaagtaaccgcaaaactctagagggggagttgagcaggcgccagggctgtc c.*1020
. . . . . . g.69333
atcaacatggatatgacatttcacaacagtgactagttgaatcccttgtaacgtagtagt c.*1080
. . . . . . g.69393
tgtctgctctttgtccatgtgttaatgaggactgcaaagtcccttctgttgtgattccta c.*1140
. . . . . . g.69453
ggacttttcctcaagaggaaatctggatttccacctaccgcttacctgaaatgcaggatc c.*1200
. . . . . . g.69513
acctacttactgtattctacattattatatgacatagtataatgagacaatatcaaaagt c.*1260
. . . . . . g.69573
aaacatgtaatgacaatacatactaacattcttgtaggagtggttagagaagctgatgcc c.*1320
. . . . . . g.69633
tcatttctacattctgtcattagctattatcatctaacgtttcagtgtatccttacagaa c.*1380
. . g.69658
ataaagcagcatatgaataacctgc c.*1405
(downstream sequence)
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