(used for variant description)
(last modified January 23, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_198947.3 in the FAM111B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering FAM111B transcript NM_198947.3.
(upstream sequence)
g.5003
gcg c.-241
. . . . . . g.5063
ggaaaagttcagctgagagatataaaagagcagtctttccagcacctgcaaatccagagc c.-181
. . . . . | 02 g.6494
ggcgggcactgacgggcacttgcaccgtgtggacagactctccggttct | ggggaaatcca c.-121
. . . . | 03 . . g.7381
gtccctgttactccattttggccagaaattcaag | acatttcaggtggcagaataaattca c.-61
. . . . . . g.7441
atccttgtttctccatcttatcgagtagtagaagttagttacattctctttgaactcatc c.-1
. . . . . . g.7501
ATGAATTCCATGAAGACTGAAGAAAACAAGTCATTTAGCGCTATGGAAGATGACCAGAGG c.60
M N S M K T E E N K S F S A M E D D Q R p.20
. . | 04 . . . . g.22033
ACTAGACCTGAAGTTTCAAAG | GATACTGTCATGAAGCAGACACATGCTGACACACCTGTT c.120
T R P E V S K | D T V M K Q T H A D T P V p.40
. . . . . . g.22093
GATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTC c.180
D H C L S G I R K C S S T F K L K S E V p.60
. . . . . . g.22153
AACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGT c.240
N K H E T A L E M Q N P N L N N K E C C p.80
. . . . . . g.22213
TTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATAT c.300
F T F T L N G N S R K L D R S V F T A Y p.100
. . . . . . g.22273
GGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGG c.360
G K P S E S I Y S A L S A N D Y F S E R p.120
. . . . . . g.22333
ATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACAT c.420
I K N Q F N K N I I V Y E E K T I D G H p.140
. . . . . . g.22393
ATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTT c.480
I N L G M P L K C L P S D S H F K I T F p.160
. . . . . . g.22453
GGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAAC c.540
G Q R K S S K E D G H I L R Q C E N P N p.180
. . . . . . g.22513
ATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAG c.600
M E C I L F H V V A I G R T R K K I V K p.200
. . . . . . g.22573
ATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACT c.660
I N E L H E K G S K L C I Y A L K G E T p.220
. . . . . . g.22633
ATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGG c.720
I E G A L C K D G R F R S D I G E F E W p.240
. . . . . . g.22693
AAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCT c.780
K L K E G H K K I Y G K Q S M V D E V S p.260
. . . . . . g.22753
GGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCAT c.840
G K V L E M D I S K K K A L Q Q K D I H p.280
. . . . . . g.22813
AAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAG c.900
K K I K Q N E S A T D E I N H Q S L I Q p.300
. . . . . . g.22873
TCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGC c.960
S K K K V H K P K K D G E T K D V E H S p.320
. . . . . . g.22933
AGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAG c.1020
R E Q I L P P Q D L S H Y I K D K T R Q p.340
. . . . . . g.22993
ACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATA c.1080
T I P R I R N Y Y F C S L P R K Y R Q I p.360
. . . . . . g.23053
AACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTC c.1140
N S Q V R R R P H L G R R Y A I N L D V p.380
. . . . . . g.23113
CAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCAT c.1200
Q K E A I N L L K N Y Q T L N E A I M H p.400
. . . . . . g.23173
CAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAA c.1260
Q Y P N F K E E A Q W V R K Y F R E E Q p.420
. . . . . . g.23233
AAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAA c.1320
K R M N L S P A K Q F N I Y K K D F G K p.440
. . . . . . g.23293
ATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCA c.1380
M T A N S V S V A T C E Q L T Y Y S K S p.460
. . . . . . g.23353
GTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTC c.1440
V G F M Q W D N N G N T G N A T C F V F p.480
. . . . . . g.23413
AATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACA c.1500
N G G Y I F T C R H V V H L M V G K N T p.500
. . . . . . g.23473
CATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACA c.1560
H P S L W P D I I S K C A K V T F T Y T p.520
. . . . . . g.23533
GAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAAT c.1620
E F C P T P D N W F S I E P W L K V S N p.540
. . . . . . g.23593
GAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGA c.1680
E N L D Y A I L K L K E N G N A F P P G p.560
. . . . . . g.23653
CTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCT c.1740
L W R Q I S P Q P S T G L I Y L I G H P p.580
. . . . . . g.23713
GAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAA c.1800
E G Q I K K I D G C T V I P L N E R L K p.600
. . . . . . g.23773
AAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTA c.1860
K Y P N D C Q D G L V D L Y D T T S N V p.620
. . . . . . g.23833
TACTGTATGTTTACCCAAAGAAGTTTCCTATCAGAGGTTTGGAACACACACACGCTTAGT c.1920
Y C M F T Q R S F L S E V W N T H T L S p.640
. . . . . . g.23893
TATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAA c.1980
Y D T C F S D G S S G S P V F N A S G K p.660
. . . . . . g.23953
TTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTT c.2040
L V A L H T F G L F Y Q R G F N V H A L p.680
. . . . . . g.24013
ATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGC c.2100
I E F G Y S M D S I L C D I K K T N E S p.700
. . . . . . g.24073
TTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAA c.2160
L Y K S L N D E K L E T Y D E E K G K Q p.720
. . . . g.24118
GAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAG c.2205
E S S L Q D H Q I E P M E C X p.734
. . . . . . g.24178
aaaagagatgctgtcttcaagaaaatatgccaataattcctggcaaagatttcatgacaa c.*60
. . . . . . g.24238
agacacttaaagcaattgcaacaaaagtgaaaattggcaaatgagacctaattaaatctt c.*120
. . . . . . g.24298
ctgcacagcaaaagaaactatcaacagggtaaacacacaacctacggaatgggagaaaat c.*180
. . . . . . g.24358
atttgcaaactatgcatacagcaaagatctaatattcagaatccattaggaacttaaaca c.*240
. . . . . . g.24418
gattaacaagcaaaaaaaacaagcaaccccattaaaaagtgggcaaaggacatgaacaaa c.*300
. . . . . . g.24478
cacttttcaaaagaagatatacacatggccaacaaggatatgaaaaaatacctgatatca c.*360
. . . . . . g.24538
ctaatcattagagaaatgcaaatcaaaaaaatgccatcacactaatcagaatggctgtta c.*420
. . . . . . g.24598
ttaaaatgccaaaaaattacagatgctggcgaggttgcagagaaaggggaatgcttatac c.*480
. . . . . . g.24658
actgctagtgggaaaataaattagttcagccattgtggaaagcagttgggtgatttctaa c.*540
. . . . . . g.24718
aagaacttaaaacagctaccattcaagccagcaatctcatgactgggtatatgtccaaag c.*600
. . . . . . g.24778
gaatataaattgttctaccataaagacatgcacatatatgttcactgcagcactattcac c.*660
. . . . . . g.24838
aatagcaaaacatgaaatcaacctaaatgcccatcaatggtagactggataaagaaaatg c.*720
. . . . . . g.24898
tgacacatatacaccatagcatactacacagccataaaaaagtacaagatcatgtgcttt c.*780
. . . . . . g.24958
gcagcaacatggatggaactgaaggtcattatcctaagcgaactaatgcaggaacagaaa c.*840
. . . . . . g.25018
gccaagtaccacatgttctctcataagtggaagctaaatattgagtacacatggacacaa c.*900
. . . . . . g.25078
agaagaaaacaacagatatggggcctacttgagggtggagggtgggaggagggtgaagac c.*960
. . . . . . g.25138
tgaaaaactgcctatggggtactatgcttattacctgggtgatgaaataatctgaacaca c.*1020
. . . . . . g.25198
aaaccctggtgacatgcagtttacctatataacaaaactgcacatggactcttaaaccta c.*1080
. . . g.25231
aataaaagtttaaaatatatataatgccaataa c.*1113
(downstream sequence)
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