(used for variant description)
(last modified December 15, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_139343.2 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-1 (NM_139343.2). Transcription of the BIN1 gene generates a range of deferentially spliced products, with or without exons 7, 12, 13, 14, 15 and 16. In addition some transcripts contain an exon (10a) derived from intron 10.
(upstream sequence)
. . g.4985
cgtcaggggagtcccgctcgccgc c.-361
. . . . . . g.5045
agccccagcgccgcgcgcgcccctccctcctcgcggacctggcggtgccggcgcccggag 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.53176
GTCAAGGCCCAGCCCAG | TGACAACGCGCCTGCAAAAGGGAACAAGAGCCCTTCGCCTCCA c.900
V K A Q P S | D N A P A K G N K S P S P P p.300
^ contains alternatively spliced exon (10b)
. . . . . . g.53236
GATGGCTCCCCTGCCGCCACCCCCGAGATCAGAGTCAACCACGAGCCAGAGCCGGCCGGC c.960
D G S P A A T P E I R V N H E P E P A G p.320
. . . . | 12 . . g.54705
GGGGCCACGCCCGGGGCCACCCTCCCCAAGTCCCCATCTCAG | CTCCGGAAAGGCCCACCA c.1020
G A T P G A T L P K S P S Q | L R K G P P p.340
^ alternatively spliced exon
. . . . . . g.54765
GTCCCTCCGCCTCCCAAACACACCCCGTCCAAGGAAGTCAAGCAGGAGCAGATCCTCAGC c.1080
V P P P P K H T P S K E V K Q E Q I L S p.360
. . . . . | 13 . g.58285
CTGTTTGAGGACACGTTTGTCCCTGAGATCAGCGTGACCACCCCCTCCCAG | TTTGAGGCC c.1140
L F E D T F V P E I S V T T P S Q | F E A p.380
^ alternatively spliced exon
. . . . . . g.58345
CCGGGGCCTTTCTCGGAGCAGGCCAGTCTGCTGGACCTGGACTTTGACCCCCTCCCGCCC c.1200
P G P F S E Q A S L L D L D F D P L P P p.400
. . . | 14 . . g.58864
GTGACGAGCCCTGTGAAGGCACCCACGCCCTCTGGTCAG | TCAATTCCATGGGACCTCTGG c.1260
V T S P V K A P T P S G Q | S I P W D L W p.420
^ alternatively spliced exon
| 15 . . . . . . g.59983
GAG | CCCACAGAGAGTCCAGCCGGCAGCCTGCCTTCCGGGGAGCCCAGCGCTGCCGAGGGC c.1320
E | P T E S P A G S L P S G E P S A A E G p.440
^ alternatively spliced exon
. . . . . | 16 . g.61054
ACCTTTGCTGTGTCCTGGCCCAGCCAGACGGCCGAGCCGGGGCCTGCCCAA | CCAGCAGAG c.1380
T F A V S W P S Q T A E P G P A Q | P A E p.460
^ alternatively spliced exon
. . . . . . g.61114
GCCTCGGAGGTGGCGGGTGGGACCCAACCTGCGGCTGGAGCCCAGGAGCCAGGGGAGACG c.1440
A S E V A G G T Q P A A G A Q E P G E T p.480
. . | 17 . . . . g.61415
GCGGCAAGTGAAGCAGCCTCC | AGCTCTCTTCCTGCTGTCGTGGTGGAGACCTTCCCAGCA c.1500
A A S E A A S | S S L P A V V V E T F P A p.500
. . . . . . g.61475
ACTGTGAATGGCACCGTGGAGGGCGGCAGTGGGGCCGGGCGCTTGGACCTGCCCCCAGGT c.1560
T V N G T V E G G S G A G R L D L P P G p.520
. | 18 . . . . . g.61814
TTCATGTTCAAG | GTACAGGCCCAGCACGACTACACGGCCACTGACACAGACGAGCTGCAG c.1620
F M F K | V Q A Q H D Y T A T D T D E L Q p.540
. . . . . | 19 . g.63661
CTCAAGGCTGGTGATGTGGTGCTGGTGATCCCCTTCCAGAACCCTGAAGAGCAG | GATGAA c.1680
L K A G D V V L V I P F Q N P E E Q | D E p.560
. . . . . . g.63721
GGCTGGCTCATGGGCGTGAAGGAGAGCGACTGGAACCAGCACAAGGAGCTGGAGAAGTGC c.1740
G W L M G V K E S D W N Q H K E L E K C p.580
. . . . g.63763
CGTGGCGTCTTCCCCGAGAACTTCACTGAGAGGGTCCCATGA c.1782
R G V F P E N F T E R V P X p.593
. . . . . . 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.64266
gataaaaactctcagaaaacgtg c.*503
(downstream sequence)
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