ENST00000697299.1 NBN

Information
Transcript ID
ENST00000697299.1
Genome
hg38
Position
chr8:89,931,000-89,984,667
Strand
-
CDS length
2,019
Amino acid length
673
Gene symbol
NBN
Gene type
protein-coding
Gene description
nibrin
Gene Entrez Gene ID
4683
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
15 89,931,000 89,935,612
14 89,937,026 89,937,075
13 89,943,253 89,943,366
12 89,946,140 89,946,295
11 89,947,824 89,947,892
10 89,953,244 89,953,691
9 89,955,283 89,955,555
8 89,958,725 89,958,854
7 89,964,410 89,964,507
6 89,970,364 89,970,557
5 89,971,173 89,971,290
4 89,978,220 89,978,323
3 89,980,734 89,980,893
2 89,981,375 89,981,523
1 89,984,525 89,984,667
CDS
Exon number Type Start Stop
15 CDS 89,935,582 89,935,612
14 CDS 89,937,026 89,937,075
13 CDS 89,943,253 89,943,366
12 CDS 89,946,140 89,946,295
11 CDS 89,947,824 89,947,892
10 CDS 89,953,244 89,953,691
9 CDS 89,955,283 89,955,555
8 CDS 89,958,725 89,958,854
7 CDS 89,964,410 89,964,507
6 CDS 89,970,364 89,970,557
5 CDS 89,971,173 89,971,290
4 CDS 89,978,220 89,978,323
3 CDS 89,980,734 89,980,893
2 CDS 89,981,375 89,981,448
Other genome
Genome Chromosome Start End Links
hg19 chr8 90,943,228 90,996,895 Link
CDS sequence
ATGCAGAATGGCTTTTCCCGAACTTTGAAGTCGGGGGATGGTATTACTTTTGGAGTGTTTGGAAGTAAATTCAGAATAGAGTATGAGCCTTTGGTTGCATGCTCTTCTTGTTTAGATGTCTCTGGGAAAACTGCTTTAAATCAAGCTATATTGCAACTTGGAGGATTTACTGTAAACAATTGGACAGAAGAATGCACTCACCTTGTCATGGTATCAGTGAAAGTTACCATTAAAACAATATGTGCACTCATTTGTGGACGTCCAATTGTAAAGCCAGAATATTTTACTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCACAAATTGAAAGTTTTTACCCACCTCTTGATGAACCATCTATTGGAAGTAAAAATGTTGATCTGTCAGGACGGCAGGAAAGAAAACAAATCTTCAAAGGGAAAACATTTATATTTTTGAATGCCAAACAGCATAAGAAATTGAGTTCCGCAGTTGTCTTTGGAGGTGGGGAAGCTAGGTTGATAACAGAAGAGAATGAAGAAGAACATAATTTCTTTTTGGCTCCGGGAACGTGTGTTGTTGATACAGGAATAACAAACTCACAGACCTTAATTCCTGACTGTCAGAAGAAATGGATTCAGTCAATAATGGATATGCTCCAAAGGCAAGGTCTTAGACCTATTCCTGAAGCAGAAATTGGATTGGCGGTGATTTTCATGACTACAAAGAATTACTGTGATCCTCAGGGCCATCCCAGTACAGGATTAAAGACAACAACTCCAGGACCAAGCCTTTCACAAGGCGTGTCAGTTGATGAAAAACTAATGCCAAGCGCCCCAGTGAACACTACAACATACGTAGCTGACACAGAATCAGAGCAAGCAGATACATGGGATTTGAGTGAAAGGCCAAAAGAAATCAAAGTCTCCAAAATGGAACAAAAATTCAGAATGCTTTCACAAGATGCACCCACTGTAAAGGAGTCCTGCAAAACAAGCTCTAATAATAATAGTATGGTATCAAATACTTTGGCTAAGATGAGAATCCCAAACTATCAGCTTTCACCAACTAAATTGCCAAGTATAAATAAAAGTAAAGATAGGGCTTCTCAGCAGCAGCAGACCAACTCCATCAGAAACTACTTTCAGCCGTCTACCAAAAAAAGGGAAAGGGATGAAGAAAATCAAGAAATGTCTTCATGCAAATCAGCAAGAATAGAAACGTCTTGTTCTCTTTTAGAACAAACACAACCTGCTACACCCTCATTGTGGAAAAATAAGGAGCAGCATCTATCTGAGAATGAGCCTGTGGACACAAACTCAGACAATAACTTATTTACAGATACAGATTTAAAATCTATTGTGAAAAATTCTGCCAGTAAATCTCATGCTGCAGAAAAGCTAAGATCAAATAAAAAAAGGGAAATGGATGATGTGGCCATAGAAGATGAAGTATTGGAACAGTTATTCAAGGACACAAAACCAGAGTTAGAAATTGATGTGAAAGTTCAAAAACAGGAGGAAGATGTCAATGTTAGAAAAAGGCCAAGGATGGATATAGAAACAAATGACACTTTCAGTGATGAAGCAGTACCAGAAAGTAGCAAAATATCTCAAGAAAATGAAATTGGGAAGAAACGTGAACTCAAGGAAGACTCACTATGGTCAGCTAAAGAAATATCTAACAATGACAAACTTCAGGATGATAGTGAGATGCTTCCAAAAAAGCTGTTATTGACTGAATTTAGATCACTGGTGATTAAAAACTCTACTTCCAGAAATCCATCTGGCATAAATGATGATTATGGTCAACTAAAAAATTTCAAGAAATTCAAAAAGGTCACATATCCTGGAGCAGGAAAACTTCCACACATCATTGGAGGATCAGATCTAATAGCTCATCATGCTCGAAAGAATACAGAACTAGAAGAGTGGCTAAGGCAGGAAATGGAGGTACAAAATCAACATGCAAAAGAAGAGTCTCTTGCTGATGATCTTTTTAGATACAATCCTTATTTAAAAAGGAGAAGATAA
Amino sequence
MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR*