(used for variant description)
(last modified December 22, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_175748.3 in the UBR7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051089.1, covering UBR7 transcript NM_175748.3.
(upstream sequence)
. . . . . g.5056
agaacacgacaccgggaagcgccacccggaggcggaaatcagcccgcgtccggcgc c.-181
. . . . . . g.5116
aggcgggagaagggagaggagtgacatccgtttgtcggaagtcgctcctcccccttcctt c.-121
. . . . . . g.5176
cgctttttttccttgtcattggttcctggcactcgggccccacctcctccggctacgccc c.-61
. . . . . . g.5236
ctcacggccgcttttcccgcctccgccggggccgagccgctgttcggctgacagttgagg c.-1
. . . . . . g.5296
ATGGCCGGAGCCGAGGGCGCCGCTGGGCGGCAGTCGGAGCTGGAGCCCGTGGTATCGTTG c.60
M A G A E G A A G R Q S E L E P V V S L p.20
. . . . . . g.5356
GTCGACGTCCTTGAGGAGGACGAGGAGCTGGAGAATGAGGCGTGCGCTGTCCTGGGCGGC c.120
V D V L E E D E E L E N E A C A V L G G p.40
. . . | 02 . . . g.7799
AGCGACTCCGAGAAGTGCTCCTACTCTCAG | GGCTCAGTAAAGAGACAAGCACTATATGCC c.180
S D S E K C S Y S Q | G S V K R Q A L Y A p.60
. . . . . . g.7859
TGTAGTACCTGCACCCCAGAGGGAGAAGAACCAGCAGGAATTTGTTTAGCTTGCAGTTAT c.240
C S T C T P E G E E P A G I C L A C S Y p.80
. . . . | 03 . . g.8609
GAATGTCATGGAAGTCACAAACTATTTGAGCTATACACAAAAAG | AAATTTTCGTTGTGAT c.300
E C H G S H K L F E L Y T K R | N F R C D p.100
. . . . | 04 . . g.9992
TGTGGAAACAGCAAGTTTAAAAATTTGGAATGCAAATTACTTCCT | GACAAAGCAAAGGTA c.360
C G N S K F K N L E C K L L P | D K A K V p.120
. . . . . . g.10052
AATTCTGGCAATAAGTACAATGACAACTTTTTTGGATTGTACTGCATTTGCAAGAGACCT c.420
N S G N K Y N D N F F G L Y C I C K R P p.140
. . | 05 . . . . g.12913
TATCCTGATCCTGAAGACGAG | ATTCCAGATGAGATGATCCAGTGCGTAGTCTGTGAAGAC c.480
Y P D P E D E | I P D E M I Q C V V C E D p.160
. | 06 . . . . . g.13166
TGGTTCCATGGAAGG | CATCTTGGTGCCATTCCCCCTGAGAGTGGGGATTTTCAGGAGATG c.540
W F H G R | H L G A I P P E S G D F Q E M p.180
. . . . . . g.13226
GTATGCCAGGCCTGCATGAAACGTTGTTCTTTTTTGTGGGCTTATGCTGCACAATTGGCA c.600
V C Q A C M K R C S F L W A Y A A Q L A p.200
| 07 . . . . . . g.16531
G | TAACCAAAATATCCACTGAGGATGATGGATTGGTGCGGAACATTGATGGAATAGGTGAT c.660
V | T K I S T E D D G L V R N I D G I G D p.220
. . . . . . g.16591
CAGGAAGTTATCAAACCTGAAAATGGAGAGCATCAAGATAGTACCCTCAAAGAGGATGTT c.720
Q E V I K P E N G E H Q D S T L K E D V p.240
. . . . . . g.16651
CCAGAACAGGGAAAGGATGATGTCCGGGAGGTTAAAGTAGAGCAGAACAGTGAACCATGT c.780
P E Q G K D D V R E V K V E Q N S E P C p.260
. . . | 08 . . . g.17187
GCCGGCTCTAGTTCTGAATCTGATCTCCAG | ACAGTGTTTAAGAATGAAAGCCTCAACGCA c.840
A G S S S E S D L Q | T V F K N E S L N A p.280
. . . . . . g.17247
GAATCAAAATCTGGCTGCAAACTTCAGGAGCTTAAAGCTAAGCAGCTTATAAAGAAAGAC c.900
E S K S G C K L Q E L K A K Q L I K K D p.300
. . . . . . g.17307
ACTGCCACCTATTGGCCCCTGAACTGGCGTAGCAAGTTGTGTACCTGCCAAGACTGTATG c.960
T A T Y W P L N W R S K L C T C Q D C M p.320
| 09 . . . . . . g.18254
| AAAATGTATGGAGATCTAGATGTCTTATTCCTGACAGATGAATACGACACAGTTCTGGCT c.1020
| K M Y G D L D V L F L T D E Y D T V L A p.340
. . . . . . g.18314
TATGAAAACAAAGGGAAGATTGCCCAGGCCACTGACAGGAGCGATCCCCTAATGGATACC c.1080
Y E N K G K I A Q A T D R S D P L M D T p.360
. . . . | 10 . . g.20275
CTTAGCAGCATGAATAGAGTCCAGCAAGTGGAACTCATTTGTG | AATACAATGATTTGAAG c.1140
L S S M N R V Q Q V E L I C E | Y N D L K p.380
. . . . | 11 . . g.24903
ACTGAACTTAAAGACTATCTCAAGAGATTTGCTGATGAAGGCACG | GTTGTTAAGAGAGAG c.1200
T E L K D Y L K R F A D E G T | V V K R E p.400
. . . . . . g.24963
GACATTCAGCAGTTCTTTGAAGAGTTTCAGTCAAAAAAGAGAAGAAGAGTGGATGGGATG c.1260
D I Q Q F F E E F Q S K K R R R V D G M p.420
. g.24981
CAGTATTACTGCAGCTAG c.1278
Q Y Y C S X p.425
. . . . . . g.25041
agtggagtatgaagctttctcattcaagccaatgaaaatgcgcttcccattcttggaata c.*60
. . . . . . g.25101
aaagaggtgtggttcacatttggccccctttccgtcctcctctgtttggagaggcctcgc c.*120
. . . . . . g.25161
gctcccttcattctctttagctgcagtagccaccgtgtggatgctgacttcacagccagc c.*180
. . . . . . g.25221
gtcctctgtgactcagctgatgcagctcattccacagacttctccagtgtactcctactc c.*240
. . . . . . g.25281
cagtgcacccagggttatttgcatagtttttaagtttgattttgttttgagaaagcaaat c.*300
. . . . . . g.25341
tggtgtcttgtttaatgatctgttatttcactcccagatgtgtgtgttttgccacagagc c.*360
. . . . . . g.25401
tgttgccttccagaacctcctccgcaggcatcacggaaggctctcttcccgtcacctaga c.*420
. . . . . . g.25461
acctctacaggtcccctcgcccctatgatcgtggtgccttgggtcaaagcttcctcaagc c.*480
. . . . . . g.25521
ctggtctgctccttctttcacgtccctgttttctgaggtttggtcatagcttagaaagga c.*540
. . . . . . g.25581
tcttggggcttgttttctctaggcccaacctccagagtagccaggactgatggttttctg c.*600
. . . . . . g.25641
gtctggatgtctgtcacaggcggagagattaacagatgacagggttgaggaagcaagcct c.*660
. . . . . . g.25701
ttgttatgaattttactaatacagttcaagtgaaattttcgttcatgattctattggcac c.*720
. . . . . . g.25761
tagaattagaatttcagtactgtagtgctcacagggcttcctggagaacatttgcccgta c.*780
. . . . . . g.25821
tactagtcccttctctgctgcctagaaaacagaccgggtctcacccctgtgaaatcttgg c.*840
. . . . . . g.25881
tggtttacgaagtcctctggatttcttgatattatcagggatattcataagcatatatca c.*900
. . . . . . g.25941
aaaatggacctattttgatattctgttatgaaaatgttattagaaccccaataaattatt c.*960
. . . . . . g.26001
atttttcccccttgaatctgctaaagaaaacagatcctgacttagcttacttgaaataag c.*1020
. . . . . . g.26061
cagggcagggagccctgttttggaagagacagactgtggaagagattacaaacaaggccc c.*1080
. . . . . . g.26121
gaggctgcacgaatgatgagttttgtgtatataatgttaatgtccaccgccacttcccta c.*1140
. . . . . . g.26181
acgactatgagatcttttttttgaagatcctcatggaaggttgtacagagccccacattt c.*1200
. . . . . . g.26241
gaggggaagtcctttcagttgatatgagatctctttaacacccctcagtctatgtaggaa c.*1260
. . . . . . g.26301
atgccttgtgatacatagagaaccctcagcttctctctgcctctggaggaccaaggtctt c.*1320
. . . . . . g.26361
tcctgacagtcggagacacaccttgatgtatgttaataaaagcatttcaggctgtggggc c.*1380
. . . . . . g.26421
caccatgtatattaatactccttatgtgtccagcatctgtgtattcattcgagtgcccaa c.*1440
. . . . . . g.26481
tccctggatgagatgaactaggccttataaaaagtcaaagcctcaaagaaatggcacaac c.*1500
. . . . . . g.26541
catgttcttcggcactcaggctcctaattgcagatcctcacgaagggtggtatgtggagc c.*1560
. . . . . . g.26601
tggaaggtcttgtggccacaggacatgctggtgagccctgagctggccttgtgcagaggg c.*1620
. . . . . . g.26661
ctccgttcaaaggctcggggtgtctttgaggttgtttatcaagctggggaactcttccaa c.*1680
. . . . . . g.26721
gtctgacaatgtttcgaaccctttttgcaaggttgcactattagtataccatcatgtccg c.*1740
. . . . . . g.26781
gaaaacttttaatcttctcaaatatctgatgtaactaccagaaagtcccttacttcctat c.*1800
. . . . . . g.26841
gaccaatcaggaccaagtcttggaggtgatgtgttacattacgtgcagcacaatagtacc c.*1860
. . . . . . g.26901
gatcagttaactcagcgctgaagggcttgttttatgaaaggtactattccttctttcaca c.*1920
. . . . . . g.26961
ttaactggaaacctctttttttacctgttgttcacaactagttttcttattgactgtatt c.*1980
. . . . . . g.27021
ggactgtctcttcttgtagagactgattttggccaacatattaatgcatgttttatgcaa c.*2040
. . . . . . g.27081
aacacaaatatgatattagttgcttttaaggagttctggcattgtatgtgcatttttgta c.*2100
. . . . . . g.27141
gaaattgttactggacttataattacatacttaactctgatcaggtttctgtaaaattta c.*2160
. . g.27161
aataaaaccaatacaaaata c.*2180
(downstream sequence)
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