(used for mutation description)
(last modified March 12, 2010)
This file was created to facilitate the description of sequence variants in the BIN1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012042.1, covering BIN1 transcript NM_139343.1 but including exon 11. Transcription of the BIN1 gene generates a range of differentially spliced products, with or without exons 7, 11, 13, 14, 15, 16 and 17.
NOTE: compared to the paper of Nicot et al. (2007), this reference sequence includes exon 11.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5045
cgcgcccctccctcctcgcggacctggcggtgccggcgcccggag c.-301
. . . . . . g.5105
tggccctttaaaaggcagcttattgtccggagggggcgggcggggggcgccgaccgcggc c.-241
. . . . . . g.5165
ctgaggcccggcccctcccctctccctccctctgtccccgcgtcgctcgctggctagctc c.-181
. . . . . . g.5225
gctggctcgctcgcccgtccggcgcacgctccgcctccgtcagttggctccgctgtcggg c.-121
. . . . . . g.5285
tgcgcggcgtggagcggcagccggtctggacgcgcggccggggctgggggctgggagcgc c.-61
. . . . . . g.5345
ggcgcgcaagatctccccgcgcgagagcggcccctgccaccgggcgaggcctgcgccgcg c.-1
. . . . . . g.5405
ATGGCAGAGATGGGCAGTAAAGGGGTGACGGCGGGAAAGATCGCCAGCAACGTGCAGAAG c.60
M A E M G S K G V T A G K I A S N V Q K p.20
. . | 02 . . . . g.35618
AAGCTCACCCGCGCGCAGGAGAAG | GTTCTCCAGAAGCTGGGGAAGGCAGATGAGACCAAG c.120
K L T R A Q E K | V L Q K L G K A D E T K p.40
. . . . | 03 . . g.41487
GATGAGCAGTTTGAGCAGTGCGTCCAGAATTTCAACAAGCAGCTG | ACGGAGGGCACCCGG c.180
D E Q F E Q C V Q N F N K Q L | T E G T R p.60
. . . . | 04 . . g.41661
CTGCAGAAGGATCTCCGGACCTACCTGGCCTCCGTCAAAG | CCATGCACGAGGCTTCCAAG c.240
L Q K D L R T Y L A S V K A | M H E A S K p.80
. . . . . . g.41721
AAGCTGAATGAGTGTCTGCAGGAGGTGTATGAGCCCGATTGGCCCGGCAGGGATGAGGCA c.300
K L N E C L Q E V Y E P D W P G R D E A p.100
. | 05 . . . . . g.42243
AACAAGATCGCAGAG | AACAACGACCTGCTGTGGATGGATTACCACCAGAAGCTGGTGGAC c.360
N K I A E | N N D L L W M D Y H Q K L V D p.120
. . . . . | 06 . g.43266
CAGGCGCTGCTGACCATGGACACGTACCTGGGCCAGTTCCCCGACATCAAG | TCACGCATT c.420
Q A L L T M D T Y L G Q F P D I K | S R I p.140
. . . . . . g.43326
GCCAAGCGGGGGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTACGAGTCCCTT c.480
A K R G R K L V D Y D S A R H H Y E S L p.160
. . . | 07 . . g.44054
CAAACTGCCAAAAAGAAGGATGAAGCCAAAATTGCCAAG | CCTGTCTCGCTGCTTGAGAAA c.540
Q T A K K K D E A K I A K | P V S L L E K p.180
^ alternatively spliced exon
. . . . . . g.44114
GCCGCCCCCCAGTGGTGCCAAGGCAAACTGCAGGCTCATCTCGTAGCTCAAACTAACCTG c.600
A A P Q W C Q G K L Q A H L V A Q T N L p.200
. | 08 . . . . . g.48318
CTCCGAAATCAG | GCCGAGGAGGAGCTCATCAAAGCCCAGAAGGTGTTTGAGGAGATGAAT c.660
L R N Q | A E E E L I K A Q K V F E E M N p.220
. . . | 09 . . g.48664
GTGGATCTGCAGGAGGAGCTGCCGTCCCTGTGGAACAG | CCGCGTAGGTTTCTACGTCAAC c.720
V D L Q E E L P S L W N S | R V G F Y V N p.240
. . . . . | 10 . g.50097
ACGTTCCAGAGCATCGCGGGCCTGGAGGAAAACTTCCACAAGGAGATGAGCAAG | CTCAAC c.780
T F Q S I A G L E E N F H K E M S K | L N p.260
. . . . . . g.50157
CAGAACCTCAATGATGTGCTGGTCGGCCTGGAGAAGCAACACGGGAGCAACACCTTCACG c.840
Q N L N D V L V G L E K Q H G S N T F T p.280
. | 11. . . . . g.51691
GTCAAGGCCCAGCCCAG | AAAGAAAAGTAAACTGTTTTCGCGGCTGCGCAGAAAGAAGAAC c.900
V K A Q P R | K K S K L F S R L R R K K N p.300
^ alternatively spliced exon
| 12 . . . . . . g.53191
AG | TGACAACGCGCCTGCAAAAGGGAACAAGAGCCCTTCGCCTCCAGATGGCTCCCCTGCC c.960
S | D N A P A K G N K S P S P P D G S P A p.320
. . . . . . g.53251
GCCACCCCCGAGATCAGAGTCAACCACGAGCCAGAGCCGGCCGGCGGGGCCACGCCCGGG c.1020
A T P E I R V N H E P E P A G G A T P G p.340
. . | 13. . . . g.54720
GCCACCCTCCCCAAGTCCCCATCTCAG | CTCCGGAAAGGCCCACCAGTCCCTCCGCCTCCC c.1080
A T L P K S P S Q | L R K G P P V P P P P p.360
^ alternatively spliced exon
. . . . . . g.54780
AAACACACCCCGTCCAAGGAAGTCAAGCAGGAGCAGATCCTCAGCCTGTTTGAGGACACG c.1140
K H T P S K E V K Q E Q I L S L F E D T p.380
. . . | 14 . . . g.58300
TTTGTCCCTGAGATCAGCGTGACCACCCCCTCCCAG | TTTGAGGCCCCGGGGCCTTTCTCG c.1200
F V P E I S V T T P S Q | F E A P G P F S p.400
^ alternatively spliced exon
. . . . . . g.58360
GAGCAGGCCAGTCTGCTGGACCTGGACTTTGACCCCCTCCCGCCCGTGACGAGCCCTGTG c.1260
E Q A S L L D L D F D P L P P V T S P V p.420
. . | 15 . . | 16 . g.59938
AAGGCACCCACGCCCTCTGGTCAG | TCAATTCCATGGGACCTCTGGGAG | CCCACAGAGAGT c.1320
K A P T P S G Q | S I P W D L W E | P T E S p.440
^ ^ alternatively spliced exons
. . . . . . g.59998
CCAGCCGGCAGCCTGCCTTCCGGGGAGCCCAGCGCTGCCGAGGGCACCTTTGCTGTGTCC c.1380
P A G S L P S G E P S A A E G T F A V S p.460
. . . | 17 . . . g.61069
TGGCCCAGCCAGACGGCCGAGCCGGGGCCTGCCCAA | CCAGCAGAGGCCTCGGAGGTGGCG c.1440
W P S Q T A E P G P A Q | P A E A S E V A p.480
^ alternatively spliced exon
. . . . . . g.61129
GGTGGGACCCAACCTGCGGCTGGAGCCCAGGAGCCAGGGGAGACGGCGGCAAGTGAAGCA c.1500
G G T Q P A A G A Q E P G E T A A S E A p.500
| 18 . . . . . . g.61430
GCCTCC | AGCTCTCTTCCTGCTGTCGTGGTGGAGACCTTCCCAGCAACTGTGAATGGCACC c.1560
A S | S S L P A V V V E T F P A T V N G T p.520
. . . . . | 19. g.61769
GTGGAGGGCGGCAGTGGGGCCGGGCGCTTGGACCTGCCCCCAGGTTTCATGTTCAAG | GTA c.1620
V E G G S G A G R L D L P P G F M F K | V p.540
. . . . . . g.61829
CAGGCCCAGCACGACTACACGGCCACTGACACAGACGAGCTGCAGCTCAAGGCTGGTGAT c.1680
Q A Q H D Y T A T D T D E L Q L K A G D p.560
. . . | 20 . . g.63676
GTGGTGCTGGTGATCCCCTTCCAGAACCCTGAAGAGCAG | GATGAAGGCTGGCTCATGGGC c.1740
V V L V I P F Q N P E E Q | D E G W L M G p.580
. . . . . . g.63736
GTGAAGGAGAGCGACTGGAACCAGCACAAGGAGCTGGAGAAGTGCCGTGGCGTCTTCCCC c.1800
V K E S D W N Q H K E L E K C R G V F P p.600
. . g.63763
GAGAACTTCACTGAGAGGGTCCCATGA c.1827
E N F T E R V P X p.608
. . . . . . g.63823
cggcggggcccaggcagcctccgggcgtgtgaagaacacctcctcccgaaaaatgtgtgg c.*60
. . . . . . g.63883
ttcttttttttgttttgttttcgtttttcatcttttgaagagcaaagggaaatcaagagg c.*120
. . . . . . g.63943
agacccccaggcagaggggcgttctcccaaagattaggtcgttttccaaagagccgcgtc c.*180
. . . . . . g.64003
ccggcaagtccggcggaattcaccagtgttcctgaagctgctgtgtcctctagttgagtt c.*240
. . . . . . g.64063
tctggcgcccctgcctgtgcccgcatgtgtgcctggccgcagggcggggctgggggctgc c.*300
. . . . . . g.64123
cgagccaccatgcttgcctgaagcttcggccgcgccacccgggcaagggtcctcttttcc c.*360
. . . . . . g.64183
tggcagctgctgtgggtggggcccagacaccagcctagcctggctctgccccgcagacgg c.*420
. . . . . . g.64243
tctgtgtgctgtttgaaaataaatcttagtgttcaaaacaaaatgaaacaaaaaaaaaat c.*480
. g.64257
gataaaaactctca c.*494
(downstream sequence)
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