ENST00000518131.5 NEFM

Information
Transcript ID
ENST00000518131.5
Genome
hg38
Position
chr8:24,913,761-24,918,976
Strand
+
CDS length
2,097
Amino acid length
699
Gene symbol
NEFM
Gene type
protein-coding
Gene description
neurofilament medium chain
Gene Entrez Gene ID
4741
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 :
Search word :
Filtering :
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 :
Search word :
Filtering :
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
1 24,913,761 24,914,873
2 24,915,605 24,915,729
3 24,917,061 24,917,616
4 24,918,271 24,918,976
CDS
Exon number Type Start Stop
1 CDS 24,913,794 24,914,873
2 CDS 24,915,605 24,915,729
3 CDS 24,917,061 24,917,616
4 CDS 24,918,271 24,918,606
Other genome
Genome Chromosome Start End Links
hg19 chr8 24,771,274 24,776,489 Link
CDS sequence
ATGAGCTACACGTTGGACTCGCTGGGCAACCCGTCCGCCTACCGGCGGGTAACCGAGACCCGCTCGAGCTTCAGCCGCGTCAGCGGCTCCCCGTCCAGTGGCTTCCGCTCGCAGTCGTGGTCCCGCGGCTCGCCCAGCACCGTGTCCTCCTCCTATAAGCGCAGCATGCTCGCCCCGCGCCTCGCTTACAGCTCGGCCATGCTCAGCTCCGCCGAGAGCAGCCTTGACTTCAGCCAGTCCTCGTCCCTGCTCAACGGCGGCTCCGGACCCGGCGGCGACTACAAGCTGTCCCGCTCCAACGAGAAGGAGCAGCTGCAGGGGCTGAACGACCGCTTTGCCGGCTACATAGAGAAGGTGCACTACCTGGAGCAGCAGAATAAGGAGATTGAGGCGGAGATCCAGGCGCTGCGGCAGAAGCAGGCCTCGCACGCCCAGCTGGGCGACGCGTACGACCAGGAGATCCGCGAGCTGCGCGCCACCCTGGAGATGGTGAACCACGAGAAGGCTCAGGTGCAGCTGGACTCGGACCACCTGGAGGAAGACATCCACCGGCTCAAGGAGCGCTTTGAGGAGGAGGCGCGGTTGCGCGACGACACTGAGGCGGCCATCCGCGCGCTGCGCAAAGACATCGAGGAGGCGTCGCTGGTCAAGGTGGAGCTGGACAAGAAGGTGCAGTCGCTGCAGGATGAGGTGGCCTTCCTGCGGAGCAACCACGAGGAGGAGGTGGCCGACCTTCTGGCCCAGATCCAGGCATCGCACATCACGGTGGAGCGCAAAGACTACCTGAAGACAGACATCTCGACGGCGCTGAAGGAAATCCGCTCCCAGCTCGAAAGCCACTCAGACCAGAATATGCACCAGGCCGAAGAGTGGTTCAAATGCCGCTACGCCAAGCTCACCGAGGCGGCCGAGCAGAACAAGGAGGCCATCCGCTCCGCCAAGGAAGAGATCGCCGAGTACCGGCGCCAGCTGCAGTCCAAGAGCATCGAGCTAGAGTCGGTGCGCGGCACCAAGGAGTCCCTGGAGCGGCAGCTCAGCGACATCGAGGAGCGCCACAACCACGACCTCAGCAGCTACCAGGACACCATCCAGCAGCTGGAAAATGAGCTTCGGGGCACAAAGTGGGAAATGGCTCGTCATTTGCGCGAATACCAGGACCTCCTCAACGTCAAGATGGCTCTGGATATAGAAATCGCTGCGTACAGAAAACTCCTGGAGGGTGAAGAGACTAGATTTAGCACATTTGCAGGAAGCATCACTGGGCCACTGTATACACACCGACCCCCAATCACAATATCCAGTAAGATTCAGAAACCCAAGGTGGAAGCTCCCAAGCTTAAGGTCCAACACAAATTTGTCGAGGAGATCATAGAGGAAACCAAAGTGGAGGATGAGAAGTCAGAAATGGAAGAGGCCCTGACAGCCATTACAGAGGAATTGGCCGTTTCCATGAAGGAAGAGAAGAAAGAAGCAGCAGAAGAAAAGGAAGAGGAACCCGAAGCTGAAGAAGAAGAAGTAGCTGCCAAAAAGTCTCCAGTGAAAGCAACTGCACCTGAAGTTAAAGAAGAGGAAGGGGAAAAGGAGGAAGAAGAAGGCCAGGAAGAAGAGGAGGAAGAAGATGAGGGAGCTAAGTCAGACCAAGCCGAAGAGGGAGGATCCGAGAAGGAAGGCTCTAGTGAAAAAGAGGAAGGTGAGCAGGAAGAAGGAGAAACAGAAGCTGAAGCTGAAGGAGAGGAAGCCGAAGCTAAAGAGGAAAAGAAAGTAGAAGGAAAAGAGGAGGTAGAGCAGGAGACCAAGGAAAAAGGCAGTGGGAGGGAAGAGGAGAAAGGCGTTGTCACCAATGGCCTAGACTTGAGCCCAGCAGATGAAAAGAAGGGGGGTGATAAAAGTGAGGAGAAAGTGGTGGTGACCAAAACGGTAGAAAAAATCACCAGTGAGGGGGGAGATGGTGCTACCAAATACATCACTAAATCTGTAACCGTCACTCAAAAGGTTGAAGAGCATGAAGAGACCTTTGAGGAGAAACTAGTGTCTACTAAAAAGGTAGAAAAAGTCACTTCACACGCCATAGTAAAGGAAGTCACCCAGAGTGACTAA
Amino sequence
MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGSPSTVSSSYKRSMLAPRLAYSSAMLSSAESSLDFSQSSSLLNGGSGPGGDYKLSRSNEKEQLQGLNDRFAGYIEKVHYLEQQNKEIEAEIQALRQKQASHAQLGDAYDQEIRELRATLEMVNHEKAQVQLDSDHLEEDIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKVELDKKVQSLQDEVAFLRSNHEEEVADLLAQIQASHITVERKDYLKTDISTALKEIRSQLESHSDQNMHQAEEWFKCRYAKLTEAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESVRGTKESLERQLSDIEERHNHDLSSYQDTIQQLENELRGTKWEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSITGPLYTHRPPITISSKIQKPKVEAPKLKVQHKFVEEIIEETKVEDEKSEMEEALTAITEELAVSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEGEKEEEEGQEEEEEEDEGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEKKVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPADEKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKVEKVTSHAIVKEVTQSD*