(used for variant description)
(last modified January 25, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_022367.3 in the SEMA4A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering SEMA4A transcript NM_022367.3.
(upstream sequence)
. . g.8610
gatctgtcacaactcgagaggtg c.-241
. . . . . . g.8670
gaaattccggtttccctggcctagagctcccagtgctggctttggcatgatgggcacctg c.-181
. . . . . . g.8730
gagggccgcactcccgttccagccaggctgagccttctgtcccctgcctctggggcctgg c.-121
. . . . . . g.8790
gaaccccccttcttctttctcctgaatggcacccccgccctagaatccagacaccgagtt c.-61
. . . . | 02 . . g.9635
tcccactgtggctggttcaagggtatgtgag | agctccctggtgacagtctgtggctgagc c.-1
. . . . . . g.9695
ATGGCCCTCCCAGCCCTGGGCCTGGACCCCTGGAGCCTCCTGGGCCTTTTCCTCTTCCAA c.60
M A L P A L G L D P W S L L G L F L F Q p.20
. . . . . . g.9755
CTGCTTCAGCTGCTGCTGCCGACGACGACCGCGGGGGGAGGCGGGCAGGGGCCCATGCCC c.120
L L Q L L L P T T T A G G G G Q G P M P p.40
. | 03 . . . . g.11511
AGGGTCAGATACTATGCAG | GGGATGAACGTAGGGCACTTAGCTTCTTCCACCAGAAGGGC c.180
R V R Y Y A G | D E R R A L S F F H Q K G p.60
. . . . . . g.11571
CTCCAGGATTTTGACACTCTGCTCCTGAGTGGTGATGGAAATACTCTCTACGTGGGGGCT c.240
L Q D F D T L L L S G D G N T L Y V G A p.80
. . . . . . g.11631
CGAGAAGCCATTCTGGCCTTGGATATCCAGGATCCAGGGGTCCCCAGGCTAAAGAACATG c.300
R E A I L A L D I Q D P G V P R L K N M p.100
| 04 . . . . . . g.13186
| ATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAAT c.360
| I P W P A S D R K K S E C A F K K K S N p.120
| 05 . . . . . . g.13501
GAG | ACACAGTGTTTCAACTTCATCCGTGTCCTGGTTTCTTACAATGTCACCCATCTCTAC c.420
E | T Q C F N F I R V L V S Y N V T H L Y p.140
. . . . | 06 . . g.13793
ACCTGCGGCACCTTCGCCTTCAGCCCTGCTTGTACCTTCATT | GAACTTCAAGATTCCTAC c.480
T C G T F A F S P A C T F I | E L Q D S Y p.160
. . . . . . g.13853
CTGTTGCCCATCTCGGAGGACAAGGTCATGGAGGGAAAAGGCCAAAGCCCCTTTGACCCC c.540
L L P I S E D K V M E G K G Q S P F D P p.180
. . | 07 . . . g.15531
GCTCACAAGCATACGGCTGTCTTGGTGG | ATGGGATGCTCTATTCTGGTACTATGAACAAC c.600
A H K H T A V L V D | G M L Y S G T M N N p.200
. . . . . . g.15591
TTCCTGGGCAGTGAGCCCATCCTGATGCGCACACTGGGATCCCAGCCTGTCCTCAAGACC c.660
F L G S E P I L M R T L G S Q P V L K T p.220
. . | 08 . . . . g.15996
GACAACTTCCTCCGCTGGCTGCATC | ATGACGCCTCCTTTGTGGCAGCCATCCCTTCGACC c.720
D N F L R W L H H | D A S F V A A I P S T p.240
. . . . . . g.16056
CAGGTCGTCTACTTCTTCTTCGAGGAGACAGCCAGCGAGTTTGACTTCTTTGAGAGGCTC c.780
Q V V Y F F F E E T A S E F D F F E R L p.260
. . . | 09 . . . g.16432
CACACATCGCGGGTGGCTAGAGTCTGCAAG | AATGACGTGGGCGGCGAAAAGCTGCTGCAG c.840
H T S R V A R V C K | N D V G G E K L L Q p.280
. . . . . . g.16492
AAGAAGTGGACCACCTTCCTGAAGGCCCAGCTGCTCTGCACCCAGCCGGGGCAGCTGCCC c.900
K K W T T F L K A Q L L C T Q P G Q L P p.300
. . . . . . g.16552
TTCAACGTCATCCGCCACGCGGTCCTGCTCCCCGCCGATTCTCCCACAGCTCCCCACATC c.960
F N V I R H A V L L P A D S P T A P H I p.320
. . | 10 . . . . g.18037
TACGCAGTCTTCACCTCCCAGTG | GCAGGTTGGCGGGACCAGGAGCTCTGCGGTTTGTGCC c.1020
Y A V F T S Q W | Q V G G T R S S A V C A p.340
. . . . . . g.18097
TTCTCTCTCTTGGACATTGAACGTGTCTTTAAGGGGAAATACAAAGAGTTGAACAAAGAA c.1080
F S L L D I E R V F K G K Y K E L N K E p.360
. . . . . | 11 . g.27888
ACTTCACGCTGGACTACTTATAGGGGCCCTGAGACCAACCCCCGGCCAGGCAGT | TGCTCA c.1140
T S R W T T Y R G P E T N P R P G S | C S p.380
. . . . . . g.27948
GTGGGCCCCTCCTCTGATAAGGCCCTGACCTTCATGAAGGACCATTTCCTGATGGATGAG c.1200
V G P S S D K A L T F M K D H F L M D E p.400
. . . . . . g.28008
CAAGTGGTGGGGACGCCCCTGCTGGTGAAATCTGGCGTGGAGTATACACGGCTTGCAGTG c.1260
Q V V G T P L L V K S G V E Y T R L A V p.420
. . . . . | 12 . g.29883
GAGACAGCCCAGGGCCTTGATGGGCACAGCCATCTTGTCATGTACCTGGGAACCA | CCACA c.1320
E T A Q G L D G H S H L V M Y L G T T | T p.440
. . . . . . g.29943
GGGTCGCTCCACAAGGCTGTGGTAAGTGGGGACAGCAGTGCTCATCTGGTGGAAGAGATT c.1380
G S L H K A V V S G D S S A H L V E E I p.460
. . . . . | 13 . g.30148
CAGCTGTTCCCTGACCCTGAACCTGTTCGCAACCTGCAGCTGGCCCCCACCCAG | GGTGCA c.1440
Q L F P D P E P V R N L Q L A P T Q | G A p.480
. . . . . . g.30208
GTGTTTGTAGGCTTCTCAGGAGGTGTCTGGAGGGTGCCCCGAGCCAACTGTAGTGTCTAT c.1500
V F V G F S G G V W R V P R A N C S V Y p.500
. . . . . . g.30268
GAGAGCTGTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCTGGGACCCTGAGTCC c.1560
E S C V D C V L A R D P H C A W D P E S p.520
. . . | 14 . . . g.30640
CGAACCTGTTGCCTCCTGTCTGCCCCCAACCT | GAACTCCTGGAAGCAGGACATGGAGCGG c.1620
R T C C L L S A P N L | N S W K Q D M E R p.540
. . . . . . g.30700
GGGAACCCAGAGTGGGCATGTGCCAGTGGCCCCATGAGCAGGAGCCTTCGGCCTCAGAGC c.1680
G N P E W A C A S G P M S R S L R P Q S p.560
. | 15 . . . . . g.31508
CGCCCGCAAATCA | TTAAAGAAGTCCTGGCTGTCCCCAACTCCATCCTGGAGCTCCCCTGC c.1740
R P Q I I | K E V L A V P N S I L E L P C p.580
. . . . . . g.31568
CCCCACCTGTCAGCCTTGGCCTCTTATTATTGGAGTCATGGCCCAGCAGCAGTCCCAGAA c.1800
P H L S A L A S Y Y W S H G P A A V P E p.600
. . . . . . g.31628
GCCTCTTCCACTGTCTACAATGGCTCCCTCTTGCTGATAGTGCAGGATGGAGTTGGGGGT c.1860
A S S T V Y N G S L L L I V Q D G V G G p.620
. . . . . . g.31688
CTCTACCAGTGCTGGGCAACTGAGAATGGCTTTTCATACCCTGTGATCTCCTACTGGGTG c.1920
L Y Q C W A T E N G F S Y P V I S Y W V p.640
. . . . . . g.31748
GACAGCCAGGACCAGACCCTGGCCCTGGATCCTGAACTGGCAGGCATCCCCCGGGAGCAT c.1980
D S Q D Q T L A L D P E L A G I P R E H p.660
. . . . . . g.31808
GTGAAGGTCCCGTTGACCAGGGTCAGTGGTGGGGCCGCCCTGGCTGCCCAGCAGTCCTAC c.2040
V K V P L T R V S G G A A L A A Q Q S Y p.680
. . . . . . g.31868
TGGCCCCACTTTGTCACTGTCACTGTCCTCTTTGCCTTAGTGCTTTCAGGAGCCCTCATC c.2100
W P H F V T V T V L F A L V L S G A L I p.700
. . . . . . g.31928
ATCCTCGTGGCCTCCCCATTGAGAGCACTCCGGGCTCGGGGCAAGGTTCAGGGCTGTGAG c.2160
I L V A S P L R A L R A R G K V Q G C E p.720
. . . . . . g.31988
ACCCTGCGCCCTGGGGAGAAGGCCCCGTTAAGCAGAGAGCAACACCTCCAGTCTCCCAAG c.2220
T L R P G E K A P L S R E Q H L Q S P K p.740
. . . . . . g.32048
GAATGCAGGACCTCTGCCAGTGATGTGGACGCTGACAACAACTGCCTAGGCACTGAGGTA c.2280
E C R T S A S D V D A D N N C L G T E V p.760
g.32054
GCTTAA c.2286
A X p.761
. . . . . . g.32114
actctaggcacaggccggggctgcggtgcaggcacctggccatgctggctgggcggccca c.*60
. . . . . . g.32174
agcacagccctgactaggatgacagcagcacaaaagaccacctttctcccctgagaggag c.*120
. . . . . . g.32234
cttctgctactctgcatcactgatgacactcagcagggtgatgcacagcagtctgcctcc c.*180
. . . . . . g.32294
cctatgggactcccttctaccaagcacatgagctctctaacagggtgggggctaccccca c.*240
. . . . . . g.32354
gacctgctcctacactgatattgaagaacctggagaggatccttcagttctggccattcc c.*300
. . . . . . g.32414
agggaccctccagaaacacagtgtttcaagagaccctaaaaaacctgcctgtcccaggac c.*360
. . . . . . g.32474
cctatggtaatgaacaccaaacatctaaacaatcatatgctaacatgccactcctggaaa c.*420
. . . . . . g.32534
ctccactctgaagctgccgctttggacaccaacactcccttctcccagggtcatgcaggg c.*480
. . . . . . g.32594
atctgctccctcctgcttcccttaccagtcgtgcaccgctgactcccaggaagtctttcc c.*540
. . . . . . g.32654
tgaagtctgaccacctttcttcttgcttcagttggggcagactctgatcccttctgccct c.*600
. . . . . . g.32714
ggcagaatggcaggggtaatctgagccttcttcactcctttaccctagctgaccccttca c.*660
. . . . . . g.32774
cctctccccctcccttttcctttgttttgggattcagaaaactgcttgtcagagactgtt c.*720
. . . g.32808
tattttttattaaaaatataaggcttatgtatga c.*754
(downstream sequence)
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