(used for variant description)
(last modified January 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_016603.2 in the FAM13B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering FAM13B transcript NM_016603.2.
(upstream sequence)
. . . . . g.5054
acgcacgtcacgtccggcccggcctccgcccgccagccgctctcctcccgctcg c.-481
. . . . . . g.5114
ccgttagggaggctctgcacctcagccgccgcctctgtcgccactctctccccctgttcc c.-421
. . . . . . g.5174
gcgtctgcgtcgccaccaccgccgggggtatccggggggtcgcttaccgggctggccccg c.-361
. . . . . . g.5234
cgccacagccgtagctttaacctcccgtcagcggccgccccaggaagaggcttctcggcc c.-301
. . . . . . g.5294
gcggagccacttggggcctcagttctcgccctcttgccgtcgccgcgggtcctggagaag c.-241
. . . . | 02. . g.16938
cggccgcggccagggaacggggcatcgcggttccaacg | attaactgctgaagtactgatc c.-181
. . . . . . g.16998
gagttctgcatttcttcaatgaggaactacaggctgatcttctgccataatctcaaacag c.-121
. . . . . . g.17058
ccataaatgacaaaagaatgcttgctcagtgagggtagctggtgcagaagccatttttta c.-61
. . . | 03 . . . g.19002
aacttaggtatttaagtactgaaag | aaaagacagctttgatttctggctgcaaaaaagat c.-1
. . . . . . g.19062
ATGAGGAAGAGCTCCTCCCCTTCCTTGAGTAACTGCAACTCCGTTCTTGCTAACAAAATA c.60
M R K S S S P S L S N C N S V L A N K I p.20
. . . . . . g.19122
TTTGGAATTCCACTTGATGAGCTGCAGCAGGGAGGACATCCAGACAATGAGGTTCCATTC c.120
F G I P L D E L Q Q G G H P D N E V P F p.40
. . . | 04. . . g.19622
ATAGTCCGCCACGTTGTGGACTATATTGAGGAACATG | GAGGTCTGGAGCAACAAGGACTT c.180
I V R H V V D Y I E E H G | G L E Q Q G L p.60
. . . . . . g.19682
TTTCAAGTCAATGGAAATGCTGAGACAGTGGAGTGGCTTCGGCAGAGATACGACAGCGGA c.240
F Q V N G N A E T V E W L R Q R Y D S G p.80
. . . . . . g.19742
GAAGAGGTGGATTTGGTTAAGGAAGCAGATGTTCCCTCAGCTATTAGCCTTCTTAGATTT c.300
E E V D L V K E A D V P S A I S L L R F p.100
. . . . . . g.19802
TTTCTTCAAGAACTTCCTGAACCTGTTATCCCTGGCAGTTTACATATTCACTTGATGCAG c.360
F L Q E L P E P V I P G S L H I H L M Q p.120
. | 05 . . . . . g.26218
CTTTCTCAAG | ATTATAATAATGAAGATGAATTTGGAAGAAAGTTGAGGTTCCTCTTGCAA c.420
L S Q D | Y N N E D E F G R K L R F L L Q p.140
. . . . . . g.26278
CAGCTTCCACCTGTTAATTATAGTTTGTTAAAGTTTCTGTGTAGATTTTTAGCCAATGTA c.480
Q L P P V N Y S L L K F L C R F L A N V p.160
. . . . . . g.26338
GCATCACATCATGAAGAAATTTGGTCCGCAAATTCTTTGGCTGCTGTCTTTGGTCCAGAT c.540
A S H H E E I W S A N S L A A V F G P D p.180
| 06 . . . . . g.27016
GTCTTCCA | CATTTACACAGATGTGGAAGACATGAAAGAGCAAGAAATAGTGAGCAGGATA c.600
V F H | I Y T D V E D M K E Q E I V S R I p.200
. . . . . . g.27076
ATGGCTGGACTTCTGGAAAACTACTATGAGTTTTTTGAGAATGAAGAGGAAGATTTTTCA c.660
M A G L L E N Y Y E F F E N E E E D F S p.220
. . . | 07 . . . g.30996
TCTAATGATTTGAGTTCAATTACTGAACAG | GTTAATGAACTTTCTGAGGAAGAAGAGGAA c.720
S N D L S S I T E Q | V N E L S E E E E E p.240
. . . . . . g.31056
GATGAAAAGCTGGAACATATTGAAGAACTTCCAGAAGAGGGTGCAGAAAAATCAAATGAC c.780
D E K L E H I E E L P E E G A E K S N D p.260
. . . . . . g.31116
ATGCCAGAGGTGGTACAATTAAGGATGACTGAAAACATCCTGGAATCAAATAGTGTTACG c.840
M P E V V Q L R M T E N I L E S N S V T p.280
| 08 . . . . | 09 . g.50507
GCAACAAG | CACCCATATATCTCCCATCAGCATCCTACCAGCCTCTACAGA | TATTTTAGAA c.900
A T S | T H I S P I S I L P A S T D | I L E p.300
. . . . . . g.50567
AGAACAATTAGAGCAGCTGTGGAACAGCACCTTTTTGATCTTCAGAGCAGCATAGATCAT c.960
R T I R A A V E Q H L F D L Q S S I D H p.320
. . . . . . g.50627
GATCTTAAGAATTTACAACAGCAAAGTGTGGTGTGTAATAATGAAGCAGAAAGTATTCAT c.1020
D L K N L Q Q Q S V V C N N E A E S I H p.340
. . | 10 . . . . g.52758
TGTGATGGGGAAGGATCTAATAACCA | GATTGATATTGCTGATGATATTATTAATGCCAGT c.1080
C D G E G S N N Q | I D I A D D I I N A S p.360
. . . . . . g.52818
GAAAGTAACAGAGACTGTTCAAAACCTGTGGCTAGCACTAATTTAGACAATGAAGCTATG c.1140
E S N R D C S K P V A S T N L D N E A M p.380
. . . | 11 . . g.75665
CAGCAAGATTGTGTATTTGAGAATGAAGAAAATACCCAG | TCTGTAGGTATATTGTTAGAG c.1200
Q Q D C V F E N E E N T Q | S V G I L L E p.400
. . . . | 12 . . g.77915
CCATGCAGTGACCGTGGTGATAGTGAAGATGGCTGTCTTGAGAG | GGAAGAATATTTGTTA c.1260
P C S D R G D S E D G C L E R | E E Y L L p.420
. . . | 13 . . . g.78377
TTTGACAGTGATAAATTGTCACACTTGATTCTG | GATTCTAGTAGCAAGATATGTGATTTG c.1320
F D S D K L S H L I L | D S S S K I C D L p.440
. . . . . . g.78437
AATGCCAACACTGAATCAGAAGTACCAGGAGGTCAGAGTGTTGGTGTTCAAGGGGAAGCA c.1380
N A N T E S E V P G G Q S V G V Q G E A p.460
. . . . . . g.78497
GCGTGTGTCAGTATTCCACATTTAGATCTGAAGAATGTTTCTGATGGTGATAAATGGGAA c.1440
A C V S I P H L D L K N V S D G D K W E p.480
| 14 . . . . . . g.83796
G | AGCCATTTCCTGCTTTTAAGTCTTGGCAGGAGGACTCTGAGTCTGGAGAAGCTCAGCTG c.1500
E | P F P A F K S W Q E D S E S G E A Q L p.500
. . . . . . g.83856
TCTCCACAAGCTGGAAGAATGAATCATCACCCCTTGGAAGAGGACTGTCCTCCAGTATTA c.1560
S P Q A G R M N H H P L E E D C P P V L p.520
. . . . . . g.83916
TCACACCGCAGTTTAGATTTTGGTCAAAGCCAGCGTTTCCTACATGATCCAGAAAAGTTG c.1620
S H R S L D F G Q S Q R F L H D P E K L p.540
. . . | 15 . . . g.84676
GATTCCTCATCTAAAGCACTGTCTTTTACTAG | AATTCGAAGATCATCCTTTAGTTCAAAA c.1680
D S S S K A L S F T R | I R R S S F S S K p.560
. . . . . . g.84736
GATGAAAAGAGAGAGGACAGAACACCTTATCAGCTGGTCAAGAAACTTCAGAAGAAAATC c.1740
D E K R E D R T P Y Q L V K K L Q K K I p.580
. . . . | 16 . . g.85422
AGACAATTTGAGGAACAGTTTGAAAGGGAAAGAAATAGCAAG | CCCTCCTACAGTGATATT c.1800
R Q F E E Q F E R E R N S K | P S Y S D I p.600
. . . . . . g.85482
GCTGCCAATCCAAAGGTATTAAAATGGATGACAGAGCTTACAAAACTGCGGAAGCAAATT c.1860
A A N P K V L K W M T E L T K L R K Q I p.620
| 17 . . . . . . g.88985
AAAG | ATGCAAAACACAAAAATTCTGATGGAGAATTTGTACCTCAGACACGTCCACGTAGT c.1920
K D | A K H K N S D G E F V P Q T R P R S p.640
. . . . . . g.89045
AACACACTTCCAAAAAGCTTTGGCTCTTCTCTAGACCATGAAGATGAAGAGAATGAAGAT c.1980
N T L P K S F G S S L D H E D E E N E D p.660
. . . . . . g.89105
GAACCCAAGGTCATTCAGAAGGAGAAAAAACCATCTAAAGAAGCAACCCTTGAACTTATT c.2040
E P K V I Q K E K K P S K E A T L E L I p.680
. . . . . | 18 . g.91808
CTTAAAAGACTGAAAGAAAAACGTATTGAGAGGTGTCTTCCAGAAGATATCAAG | AAAATG c.2100
L K R L K E K R I E R C L P E D I K | K M p.700
. . . . . . g.91868
ACCAAAGATCATTTGGTAGAAGAGAAAGCTTCTCTTCAGAAAAGTCTTCTTTACTATGAA c.2160
T K D H L V E E K A S L Q K S L L Y Y E p.720
. | 19 . . . . g.92158
AGTCAACATGGAAGGCCG | GTGACCAAGGAAGAAAGGCACATTGTTAAACCTCTCTATGAT c.2220
S Q H G R P | V T K E E R H I V K P L Y D p.740
. . . . . | 20 . g.94903
AGATACAGGCTTGTAAAACAAATGCTGACAAGAGCTAGCATCACTCCTGTCCTT | GGATCT c.2280
R Y R L V K Q M L T R A S I T P V L | G S p.760
. . . . . . g.94963
CCATCCACCAAGCGAAGGGGTCAGATGTTACAGCCAATCATAGAAGGAGAAACTGCACAT c.2340
P S T K R R G Q M L Q P I I E G E T A H p.780
. | 21 . . . . g.95117
TTTTTTGAAGAAATCAAG | GAGGAAGAAGAAGATGGTGTTAATCTGTCCTCTGAGTTAGGT c.2400
F F E E I K | E E E E D G V N L S S E L G p.800
. . . . . . g.95177
GATATGTTGAAAACTGCAGTACAGGTACAGTCTTCATTAGAAAACTCTGAATCTGATGTT c.2460
D M L K T A V Q V Q S S L E N S E S D V p.820
. . . . . . g.95237
GAAGAAAATCAAGAAAAACTGGCTCTGGATCTCCGATTGTCAAGTTCTCGAGCAGCTTCT c.2520
E E N Q E K L A L D L R L S S S R A A S p.840
| 22 . . . . . . g.96126
AT | GCCTGAATTATTGGAACAACTTTGGAAAGCCAGAGCTGAAAAAAAGAAACTACGCAAA c.2580
M | P E L L E Q L W K A R A E K K K L R K p.860
. . . . | 23 . . g.97781
ACGTTGCGGGAATTTGAAGAAGCATTTTATCAACAAAATGGAAG | GAATGCCCAGAAAGAG c.2640
T L R E F E E A F Y Q Q N G R | N A Q K E p.880
. . . . . . g.97841
GATCGTGTTCCAGTGCTTGAGGAGTACAGAGAGTACAAGAAAATTAAAGCCAAGCTTAGG c.2700
D R V P V L E E Y R E Y K K I K A K L R p.900
. . . . g.97889
CTTCTTGAAGTTCTTATAAGCAAACAAGATTCTTCAAAATCCATATAA c.2748
L L E V L I S K Q D S S K S I X p.915
. . . . . . g.97949
gatacgttccttgaaaattcatatcataaagtcagttgtattccttgaagctatcatcgt c.*60
. . . . . . g.98009
gtgtacttggctggtacttaaattcgttttgtcaggcactcagagaatctcattttgtac c.*120
. . . . . . g.98069
ttggttgtggtgccactaaacaaaacaaatgatgggagagtaagtaggccctctcaaggg c.*180
. . . . . . g.98129
agcgtaagtgatgttccatattaaccacagactgtcctctccacctttagcaaacatatg c.*240
. . . . . . g.98189
gtttacttcattgttttgtactacagatacatccttttagcaaaagactggaattttatc c.*300
. . . . . . g.98249
ctttcaacttcaagaactttggaaatgcaagctttttgttattaccaactttttgtttct c.*360
. . . . . . g.98309
cattactgaagaaaattggaggaaaatcttcatactgaattcttctgttgcctttttctt c.*420
. . . . . . g.98369
acagaatgactgaaaatttgaaagaaaagcctataaaagtgcacatacgcaactgtgttc c.*480
. . . . . . g.98429
tctgttttcctagaaaaccaaaatcaaactgagatttcaagtcgtactatggaacacctt c.*540
. . . . . . g.98489
tctgtttaattcccaaagtgacatcttctcacaggtagtatgttagtaaaattttgcaat c.*600
. . . . . . g.98549
tcgctggtcacacagctcccggatgaagataacagttggtagaccaaaaggtgacctcgc c.*660
. . . . . . g.98609
ttagtatattgaaaacacacaccacacatcacacacagaactgaatcataccacatgctg c.*720
. . . . . . g.98669
cctatgggacttcagttactgtttcctgagttactgtttatccgctggcaatggtgtgat c.*780
. . . . . . g.98729
ttgtctggatcagatccgcgctattccccaacccacctccagataatgtgagaaaatagc c.*840
. . . . . . g.98789
catgtcagtatgtaggaactctgatggtgctcagatttgtgtgttcaatcaatgggctta c.*900
. . . . . . g.98849
aatcagcaaaatattatgcctaaagtaaatctgttcttaacaagggctctaccactgcat c.*960
. . . . . . g.98909
tttcacatgtaccttcagggggttatctttttttttttcccctcctattttaatcagcaa c.*1020
. . . . . . g.98969
aatccataccaaaacaacgacaacaacgccctcttaagggaccaccctttggtcaatcat c.*1080
. . . . . . g.99029
aacatgctgtttaaagcagctgtttacaggatgtgtagtggtatgccccttgtcatatac c.*1140
. . . . . . g.99089
tcttagcatatctttttttcctttggctttgcatggcttttcttcaggtactgtctcggt c.*1200
. . . . . . g.99149
atcattctgctaatcattgttacagaatggtgacttcatttgtgctaacagtacaacagc c.*1260
. . . . . . g.99209
agatttgggtcaggcttaatctaagtgttaacttttttttctggtgcttttttggattga c.*1320
. . . . . . g.99269
tgactgtctcactttgactatacccatgttttgcatgcaatgactcatgcatggttttct c.*1380
. . . . . . g.99329
taactagctaatattaacaatttattccatataaaaatggaattttgcaacatcctttaa c.*1440
. . . . . . g.99389
taaggtgagggaagcatgaacctcagacttctggcactattacatagtaagcacatgaag c.*1500
. . . . . . g.99449
tagtttgataataaatagcagttctagtacttcacatttcacccgtgtgtgcaatgcctt c.*1560
. . . . . . g.99509
tttctggggggtggggggtgagggaaaacctggtagtgaatgtgtagttggggaataaag c.*1620
. . . . . . g.99569
aaaagcactaaatcctgccctttttgtgtggtttccttttgatacaactaggttattcat c.*1680
. . . . . . g.99629
aatgtatacctagaaaagtgaaattgaaaataccaaaagatgtatcatttttatttgaat c.*1740
. . . . . . g.99689
ccatcatgcagtgtacatttcagataatttccttcagtctccagataggagtgtatccaa c.*1800
. . . . . . g.99749
acatctaattttatgtgcactgtgtatcttatatgaatgttttattttatataccacatg c.*1860
. . . . . . g.99809
caaaaatgtccatatgcactatttaaatgttttaaataatatattccttctttataatgc c.*1920
. . . . . . g.99869
taaatctatatgagtaccatatttttataagtcagtggtctgactggtttcattttagaa c.*1980
. . . . . . g.99929
ttaacagctgcttcaatatgttattcaatgttaatgtttggctgtgagtagaatatgtaa c.*2040
. . . . . . g.99989
aagtggcatggcagcacttatgctctgtgacagtattgtgtgtcatagttgagcagtagc c.*2100
. . . . . . g.100049
tggtagaattaggcagttggtgatagttttactttggtacaaataaaaactgtatatcta c.*2160
. . . . . . g.100109
tatacaaataatatatagatatatatgtccaccagtataatggcattgctgtgtctggca c.*2220
. . . . . g.100165
cttcattgtacagacttttataataaaagaacttgaaagttctaagtcattgtaaa c.*2276
(downstream sequence)
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