(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_144720.3 in the JAKMIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering JAKMIP1 transcript NM_144720.3.
(upstream sequence)
g.5006
ggtgcc c.-481
. . . . . . g.5066
gtgcctgagccgggcgcgggcgaccgagggagctgcagccacccgcgtgcggcacgcgcc c.-421
. . . . . . g.5126
ggccgcctgcccggatcgcggccaccagtgccgcggcctctcgactcccgccccgccgag c.-361
. . . . . . g.5186
ccgcgcgcgcgactgccatcctcctcaattgctttttacgattttttttgtgcatgcatt c.-301
. . . . . . g.5246
cattttctgttccgttttgtcctttttaaggcggtggcggcggcgacagcggcgtaagct c.-241
. . . . . . g.5306
cgcagcggggagggggcggccggaggatgcggcgcggggctgcgctcgctacgtccgctg c.-181
. . . . | 02 . . g.92621
ctgctgcccggctcgggcctgagcgccgagcag | gatcccaagtgatggtggtttcctcgg c.-121
. . . . . . g.92681
agggcgagctgagtcctgcgcgactggttagcacggtggagctggtagccacgcctgctg c.-61
. . . . . . g.92741
gctggcgtgcgtgaacaggtgtggaccgcaggatctcagcactctgacccaaggggaagc c.-1
. . . . . . g.92801
ATGTCGAAGAAAGGCCGGAGCAAGGGCGAGAAGCCCGAGATGGAGACGGACGCGGTGCAG c.60
M S K K G R S K G E K P E M E T D A V Q p.20
. . . . . . g.92861
ATGGCCAACGAGGAGCTGCGGGCCAAGCTGACCAGCATTCAGATCGAGTTCCAGCAGGAA c.120
M A N E E L R A K L T S I Q I E F Q Q E p.40
| 03 . . . . . g.99675
AAAAGCAAG | GTGGGCAAACTGCGCGAGCGGCTGCAGGAGGCGAAGCTGGAGCGCGAGCAG c.180
K S K | V G K L R E R L Q E A K L E R E Q p.60
. . . . . . g.99735
GAGCAGCGACGGCACACGGCCTACATTTCGGAGCTCAAGGCCAAGCTGCATGAGGAGAAG c.240
E Q R R H T A Y I S E L K A K L H E E K p.80
. . . . . . g.99795
ACCAAGGAGCTGCAGGCGCTGCGCGAGGGGCTCATCCGGCAGCACGAGCAGGAGGCGGCG c.300
T K E L Q A L R E G L I R Q H E Q E A A p.100
. . . . . . g.99855
CGCACCGCCAAGATCAAGGAGGGCGAGCTGCAGCGGCTGCAGGCCACGCTGAACGTGCTG c.360
R T A K I K E G E L Q R L Q A T L N V L p.120
. . . . . . g.99915
CGCGACGGCGCGGCCGACAAGGTCAAGACGGCGCTGCTGACCGAGGCGCGCGAGGAGGCG c.420
R D G A A D K V K T A L L T E A R E E A p.140
. . . . . . g.99975
CGCAGGGCCTTCGATGGAGAGCGCCTGCGGCTGCAGCAGGAGATCCTGGAGCTCAAGGCA c.480
R R A F D G E R L R L Q Q E I L E L K A p.160
. . . . . . g.100035
GCGCGCAAGCAGGCAGAGGAGGCGCTCAGTAACTGCATGCAGGCTGACAAGACCAAGGCA c.540
A R K Q A E E A L S N C M Q A D K T K A p.180
. . . . . . g.100095
GCCGACCTGCGTGCCGCCTACCAGGCGCACCAAGACGAGGTGCACCGCATCAAGCGCGAG c.600
A D L R A A Y Q A H Q D E V H R I K R E p.200
. . | 04 . . . . g.119998
TGCGAGCGCGACATCCGCAGGCTG | ATGGATGAGATCAAAGGGAAAGACCGTGTGATTCTG c.660
C E R D I R R L | M D E I K G K D R V I L p.220
. . . . . . g.120058
GCCTTGGAGAAGGAACTTGGCGTGCAGGCTGGGCAGACCCAGAAGCTGCTTCTGCAGAAA c.720
A L E K E L G V Q A G Q T Q K L L L Q K p.240
. . . . . . g.120118
GAGGCTTTGGATGAGCAGCTGGTTCAGGTCAAGGAGGCCGAGCGGCACCACAGTAGTCCA c.780
E A L D E Q L V Q V K E A E R H H S S P p.260
. . . . . | 05 . g.120632
AAGAGAGAGCTCCCGCCCGGGATCGGGGACATGGTGGAGCTCATGGGCGTCCAG | GATCAA c.840
K R E L P P G I G D M V E L M G V Q | D Q p.280
. . . . . . g.120692
CATATGGACGAGCGAGATGTGAGGCGATTTCAACTAAAAATTGCTGAACTGAATTCAGTG c.900
H M D E R D V R R F Q L K I A E L N S V p.300
. . . . . | 06 . g.123842
ATACGGAAGCTGGAAGACAGAAATACGCTGTTGGCAGATGAGAGGAATGAACTG | CTGAAA c.960
I R K L E D R N T L L A D E R N E L | L K p.320
. . . . . . g.123902
CGCTCACGAGAGACCGAGGTTCAGCTGAAGCCCCTGGTGGAGAAGAACAAGCGGATGAAC c.1020
R S R E T E V Q L K P L V E K N K R M N p.340
. . . . . . g.123962
AAGAAGAATGAGGATCTGTTGCAGAGTATCCAGAGGATGGAGGAGAAAATCAAGAACCTC c.1080
K K N E D L L Q S I Q R M E E K I K N L p.360
. . | 07 . . . . g.125318
ACGCGGGAAAACGTGGAAATG | AAAGAAAAGCTGTCAGCGCAGGCGTCTCTGAAGCGGCAT c.1140
T R E N V E M | K E K L S A Q A S L K R H p.380
. . . . . . g.125378
ACCTCCTTGAATGACCTCAGCCTGACGAGGGATGAGCAGGAGATCGAGTTCCTGAGGCTG c.1200
T S L N D L S L T R D E Q E I E F L R L p.400
. . . . | 08 . . g.126611
CAGGTGCTGGAGCAGCAGCACGTCATTGACGACCTCTCACTG | GAGAGAGAACGGCTGTTG c.1260
Q V L E Q Q H V I D D L S L | E R E R L L p.420
. . . . | 09 . . g.140601
CGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAG | AAGCATGTTGTGGAGACA c.1320
R S K R H R G K S L K P P K | K H V V E T p.440
. . . . . . g.140661
TTTTTTGGATTTGATGAGGAGTCTGTGGACTCAGAAACGTTGTCCGAAACATCCTACAAC c.1380
F F G F D E E S V D S E T L S E T S Y N p.460
. . . . . | 10 . g.143160
ACAGACAGGACAGACAGGACCCCAGCCACGCCCGAAGAAGACTTGGACGAT | GCCACAGCC c.1440
T D R T D R T P A T P E E D L D D | A T A p.480
. . . . . . g.143220
CGAGAGGAGGCTGACCTGCGCTTCTGCCAGCTGACCCGGGAGTACCAGGCCCTGCAACGC c.1500
R E E A D L R F C Q L T R E Y Q A L Q R p.500
. . . . . . g.143280
GCCTACGCCCTGCTCCAGGAGCAGGTGGGAGGCACGCTGGACGCTGAGAGGGAGGCCCGG c.1560
A Y A L L Q E Q V G G T L D A E R E A R p.520
| 11 . . . . . . g.145144
| ACTCGGGAGCAGCTACAAGCTGATCTGCTGAGGTGTCAGGCCAAAATCGAAGATTTGGAG c.1620
| T R E Q L Q A D L L R C Q A K I E D L E p.540
. . | 12 . . . . g.148868
AAGTTACTGGTTGAGAAGGGACAG | GATTCCAAGTGGGTTGAAGAGAAGCAGCTGCTCATC c.1680
K L L V E K G Q | D S K W V E E K Q L L I p.560
. . | 13. . . . g.151476
AGAACAAACCAAGACTTGCTGGAAAAG | ATTTACAGACTGGAAATGGAAGAGAACCAGCTG c.1740
R T N Q D L L E K | I Y R L E M E E N Q L p.580
. . . . . . g.151536
AAGAATGAAATGCAAGACGCCAAGGATCAGAACGAGCTGTTAGAATTCAGAGTGCTAGAA c.1800
K N E M Q D A K D Q N E L L E F R V L E p.600
. . . . . . g.151596
CTCGAAGTAAGAGACTCTATCTGTTGTAAACTCTCAAACGGAGCAGACATTCTCTTTGAA c.1860
L E V R D S I C C K L S N G A D I L F E p.620
. . g.151617
CCCAAACTGAAATTCATGTAA c.1881
P K L K F M X p.626
. . . . . . g.151677
agctctcagatgttttcaagcatgtgtaaaggggacatgttatagtttctttctttcttt c.*60
. . . . . . g.151737
ctttctttttttttttaaatctgtatgttcagaataatttcactgccttaatgtgttctg c.*120
. . . . . . g.151797
gagagcgtgctcacccaagtctatggacatgtaccagagctaatatatttattgcctatg c.*180
. . . . g.151837
gcttgttttgcacttaataaaataatttgtttttgcaata c.*220
(downstream sequence)
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