(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_004424.3 in the E4F1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering E4F1 transcript NM_004424.3.
(upstream sequence)
. . . . g.5048
atgacgacatggtcgtaaatccgccatcttcctgcggcgcgttgcgac c.-1
. . . . . . g.5108
ATGGAGGGCGCGATGGCAGTGCGGGTGACGGCCGCTCATACGGCAGAAGCCCAGGCCGAA c.60
M E G A M A V R V T A A H T A E A Q A E p.20
. . . . . . g.5168
GCCGGGCGGGAAGCGGGCGAGGGTGCAGTTGCGGCGGTGGCGGCGGCCTTGGCCCCCAGC c.120
A G R E A G E G A V A A V A A A L A P S p.40
. . . | 02. . . g.9829
GGCTTCCTCGGCCTCCCGGCGCCCTTCAGCGAGGAAG | ATGAGGACGATGTGCACAGATGC c.180
G F L G L P A P F S E E D | E D D V H R C p.60
. . . . . . g.9889
GGCCGCTGCCAGGCAGAGTTCACCGCCTTGGAGGATTTTGTTCAGCACAAGATTCAGAAG c.240
G R C Q A E F T A L E D F V Q H K I Q K p.80
. . . . . . g.9949
GCCTGCCAGCGGGCCCCTCCGGAGGCCCTGCCTGCCACCCCTGCCACCACAGCGTTGCTG c.300
A C Q R A P P E A L P A T P A T T A L L p.100
| 03 . . . . . g.11055
GGCCAGGAG | GTGGTGCCGGCAGCACCAGGCCCAGAGGAGCCCATCACTGTGGCCCACATC c.360
G Q E | V V P A A P G P E E P I T V A H I p.120
. . . . . | 04 . g.13610
GTGGTGGAGGCGGCCTCTCTGGCAGCAGACATCAGCCACGCATCTGACCTTGTTG | GTGGT c.420
V V E A A S L A A D I S H A S D L V G | G p.140
. . . . . . g.13670
GGGCACATCAAAGAGGTCATCGTGGCTGCTGAGGCGGAGCTGGGAGACGGTGAGATGGCC c.480
G H I K E V I V A A E A E L G D G E M A p.160
. . . . . . g.13730
GAGGCCCCGGGCAGCCCCCGCCAGCAGGGGCTGGGGCTCGCAGGGGAGGGTGAGCAGGCC c.540
E A P G S P R Q Q G L G L A G E G E Q A p.180
. . . . . . g.13790
CAGGTGAAGCTACTGGTGAACAAGGATGGCCGCTATGTGTGTGCGCTGTGCCACAAGACC c.600
Q V K L L V N K D G R Y V C A L C H K T p.200
| 05 . . . . . g.13941
TTCAAGACG | GGCAGCATCCTCAAGGCCCACATGGTCACTCACAGCAGCCGCAAGGACCAC c.660
F K T | G S I L K A H M V T H S S R K D H p.220
. . . . . . g.14001
GAGTGCAAGCTCTGTGGGGCCTCCTTCCGCACCAAGGGCTCACTCATCCGGCACCACCGG c.720
E C K L C G A S F R T K G S L I R H H R p.240
. | 06 . . . . . g.14240
CGGCACACGG | ATGAGCGCCCCTACAAGTGCTCCAAGTGTGGAAAGAGCTTCCGGGAGTCG c.780
R H T D | E R P Y K C S K C G K S F R E S p.260
. . . . . . g.14300
GGTGCACTGACCCGGCACCTCAAGTCTCTCACCCCCTGCACAGAGAAAATCCGCTTCAGT c.840
G A L T R H L K S L T P C T E K I R F S p.280
. . . . | 07 . . g.14462
GTGAGCAAGGACGTGGTTGTCAGCAAAGAGGACGCACGTGCAG | GTTCTGGAGCTGGAGCT c.900
V S K D V V V S K E D A R A G | S G A G A p.300
. . . . . . g.14522
GCCGGCTTGGGGACAGCCACATCATCGGTGACAGGCGAGCCTATAGAGACTTCACCCGTG c.960
A G L G T A T S S V T G E P I E T S P V p.320
. . . . . . g.14582
ATTCACCTGGTGACAGATGCCAAGGGCACCGTCATCCACGAAGTCCACGTCCAGATGCAG c.1020
I H L V T D A K G T V I H E V H V Q M Q p.340
. . . | 08 . . . g.14896
GAGCTGTCCCTGGGCATGAAAGCCCTGGCCCCAGAG | CCCCCCGTCTCCCAGGAGCTCCCC c.1080
E L S L G M K A L A P E | P P V S Q E L P p.360
. . . . . . g.14956
TGCTCCAGCGAGGGCAGCCGTGAGAACCTGCTGCACCAGGCCATGCAGAACTCCGGCATC c.1140
C S S E G S R E N L L H Q A M Q N S G I p.380
. . . . . . g.15016
GTCCTTGAGCGCGCTGCTGGGGAGGAGGGTGCCCTGGAGCCAGCTCCTGCTGCCGGGTCC c.1200
V L E R A A G E E G A L E P A P A A G S p.400
. . . . . . g.15076
AGTCCCCAGCCCCTGGCAGTGGCAGCCCCGCAGCTGCCGGTACTGGAAGTGCAGCCGCTG c.1260
S P Q P L A V A A P Q L P V L E V Q P L p.420
| 09 . . . . . . g.15370
GAGACA | CAGGTGGCCAGCGAGGCCTCAGCGGTGCCCAGGACCCACCCATGTCCTCAGTGC c.1320
E T | Q V A S E A S A V P R T H P C P Q C p.440
. . . . . | 10 . g.15610
AGTGAGACCTTCCCGACAGCAGCCACCCTGGAGGCCCACAAGAGGGGCCACACCG | GGCCG c.1380
S E T F P T A A T L E A H K R G H T G | P p.460
. . . . . . g.15670
AGGCCGTTCGCCTGCGCGCAGTGTGGCAAGGCCTTCCCCAAGGCCTACCTGCTCAAGAAG c.1440
R P F A C A Q C G K A F P K A Y L L K K p.480
. . . . . . g.15730
CACCAGGAGGTGCACGTGCGTGAGCGCCGCTTCCGCTGTGGCGACTGCGGGAAGCTCTAC c.1500
H Q E V H V R E R R F R C G D C G K L Y p.500
. . . . . . g.15790
AAGACCATTGCCCATGTGCGTGGCCACCGGCGCGTCCACTCAGACGAGCGGCCCTACCCT c.1560
K T I A H V R G H R R V H S D E R P Y P p.520
. . . | 11 . . . g.16044
TGTCCCAAGTGTGGCAAGCGCTACAAGACTAAG | AACGCACAGCAGGTGCACTTCAGGACA c.1620
C P K C G K R Y K T K | N A Q Q V H F R T p.540
. . . . . . g.16104
CACCTGGAGGAGAAGCCGCACGTGTGCCAGTTCTGCAGCCGTGGCTTCCGAGAGAAGGGC c.1680
H L E E K P H V C Q F C S R G F R E K G p.560
. . . . . . g.16164
TCACTGGTGCGGCACGTGCGACACCACACAGGCGAGAAGCCGTTCAAGTGCTACAAGTGC c.1740
S L V R H V R H H T G E K P F K C Y K C p.580
. . . . . | 12 . g.16301
GGCCGTGGCTTCGCCGAGCACGGCACGCTGAACCGGCACCTGCGCACCAAAG | GGGGCTGC c.1800
G R G F A E H G T L N R H L R T K G | G C p.600
. . . . . . g.16361
CTGCTGGAGGTGGAGGAGTTGCTGGTGTCTGAGGACAGCCCCGCGGCAGCCACCACCGTC c.1860
L L E V E E L L V S E D S P A A A T T V p.620
. . . . . . g.16421
CTCACGGAAGACCCGCACACAGTGTTGGTGGAGTTCTCGTCCGTGGTAGCTGACACCCAG c.1920
L T E D P H T V L V E F S S V V A D T Q p.640
. | 13 . . . . . g.16560
GAGTATATCATCGAG | GCCACTGCGGACGATGCGGAGACCAGTGAGGCCACGGAGATCATC c.1980
E Y I I E | A T A D D A E T S E A T E I I p.660
. | 14 . . . . g.16692
GAGGGCACCCAGACAGAG | GTGGACAGCCACATCATGAAGGTGGTGCAGCAGATCGTGCAC c.2040
E G T Q T E | V D S H I M K V V Q Q I V H p.680
. . . . . . g.16752
CAGGCTAGCGCCGGCCACCAGATCATCGTGCAGAACGTCACCATGGACGAGGAGACGGCG c.2100
Q A S A G H Q I I V Q N V T M D E E T A p.700
. . . . . . g.16812
CTGGGCCCAGAGGCGGCTGCCGCCGACACCATCACCATCGCCACCCCCGAGAGCCTGACA c.2160
L G P E A A A A D T I T I A T P E S L T p.720
. . . . . . g.16872
GAGCAGGTGGCCATGACGCTGGCCTCGGCCATCAGCGAGGGCACTGTGCTTGCCGCCCGG c.2220
E Q V A M T L A S A I S E G T V L A A R p.740
. . . . . . g.16932
GCAGGGACAAGTGGCACTGAACAGGCCACTGTGACCATGGTGTCATCAGAGGACATCGAG c.2280
A G T S G T E Q A T V T M V S S E D I E p.760
. . . . . . g.16992
ATCCTGGAGCATGCAGGCGAGCTGGTCATCGCCTCGCCGGAGGGCCAGCTGGAGGTGCAG c.2340
I L E H A G E L V I A S P E G Q L E V Q p.780
. g.17007
ACGGTCATCGTCTAG c.2355
T V I V X p.784
. . . . . . g.17067
catgaggtctgcggggtcctggccgggcagggacagggcagaggactctgagcgccccac c.*60
. . . . . . g.17127
ccatgcctgcctggcctggtagagaagatggcacaggatggaggcgccccaagacggaca c.*120
. . . . . g.17177
gtgtacataagagtttcttgttgctttacaataaaacatgagaacctgca c.*170
(downstream sequence)
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