Information

Transcript ID: ENST00000594047.2
Genome: hg38
Position: chr15:99,105,080-99,135,583
Strand: +
CDS length: 3,762
Amino acid length: 1,254
Gene symbol: SYNM
Gene type: protein-coding
Gene description: synemin
Gene Entrez Gene ID: 23336

Variants

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MGeND data only All data

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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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Exon

Exon number	Start	Stop
1	99,105,080	99,106,009
2	99,113,591	99,113,715
3	99,126,722	99,126,792
4	99,129,367	99,131,813
5	99,132,750	99,135,583

CDS

Exon number	Type	Start	Stop
1	CDS	99,105,200	99,106,009
2	CDS	99,113,591	99,113,715
3	CDS	99,126,722	99,126,792
4	CDS	99,129,367	99,131,813
5	CDS	99,132,750	99,133,058

Other genome

Genome	Chromosome	Start	End	Links
hg19	chr15	99,645,286	99,675,788	Link

CDS sequence

ATGCTGTCCTGGCGGCTGCAGACGGGCCCCGAGAAGGCCGAGCTCCAGGAGCTCAACGCCCGGCTCTATGACTACGTGTGTCGGGTGCGGGAGCTGGAGCGCGAAAACCTACTCCTGGAGGAGGAGCTGCGCGGCCGGCGCGGGCGAGAGGGCCTGTGGGCCGAGGGGCAGGCCCGCTGCGCCGAGGAGGCGCGCAGCTTGCGGCAGCAGCTGGACGAGCTGAGCTGGGCCACTGCGCTGGCGGAGGGCGAGCGGGACGCTCTGCGGCGCGAGCTGCGGGAGCTGCAGCGCCTGGATGCGGAGGAGCGCGCCGCCCGCGGCCGCCTGGACGCCGAGCTGGGTGCGCAGCAGCGCGAGCTGCAGGAGGCGCTGGGCGCGCGCGCCGCCCTCGAGGCGCTGCTGGGCCGGCTGCAGGCCGAGCGCCGAGGCCTCGACGCGGCCCACGAACGCGACGTGAGGGAGCTGCGCGCGCGCGCCGCCAGCCTTACCATGCATTTCCGCGCCCGCGCCACCGGCCCCGCCGCGCCGCCGCCACGCCTGCGGGAGGTGCACGACAGCTACGCACTGCTGGTGGCCGAGTCGTGGCGGGAGACGGTGCAGCTGTACGAGGACGAGGTGCGCGAGCTGGAGGAGGCGCTGCGGCGCGGCCAGGAGAGCAGACTCCAGGCGGAGGAAGAGACGCGGCTGTGCGCGCAGGAGGCAGAGGCGCTGCGGCGCGAGGCGCTCGGGTTGGAGCAGCTGCGCGCGCGGCTGGAGGACGCGCTGCTGCGGATGCGCGAGGAGTACGGGATACAGGCCGAGGAGCGGCAGAGAGTGATTGACTGCCTGGAGGATGAGAAGGCAACCCTCACCTTGGCCATGGCTGACTGGCTGCGGGACTATCAGGACCTCCTGCAGGTGAAGACCGGCCTCAGTCTGGAGGTGGCGACCTACCGGGCCTTATTGGAAGGAGAAAGTAATCCAGAGATAGTGATCTGGGCTGAGCACGTTGAAAACATGCCGTCAGAATTCAGAAACAAATCCTATCACTATACCGACTCACTACTACAGAGGGAAAATGAAAGGAATCTATTTTCAAGGCAGAAAGCACCTTTGGCAAGTTTCAATCACAGCTCGGCACTGTATTCTAACCTGTCAGGGCACCGTGGATCTCAGACGGGCACATCTATTGGAGGTGATGCCAGAAGAGGCTTCTTGGGCTCGGGATATTCTTCCTCGGCCACTACCCAGCAGGAAAACTCATACGGAAAAGCCGTCAGCAGTCAAACCAACGTCAGAACTTTCTCTCCAACCTATGGCCTTTTAAGAAATACTGAGGCTCAAGTGAAAACATTCCCTGACAGACCAAAAGCCGGAGATACAAGGGAGGTCCCCGTTTACATAGGTGAAGATTCCACAATTGCCCGCGAGTCGTACCGGGATCGCCGAGACAAGGTGGCAGCAGGTGCTTCGGAAAGCACACGGTCAAATGAGAGGACCGTCATTCTGGGAAAGAAAACAGAAGTGAAAGCCACGAGGGAGCAAGAAAGAAACAGACCAGAAACCATCCGAACAAAGCCAGAAGAGAAAATGTTCGATTCTAAAGAGAAGGCTTCCGAGGAGAGAAACCTAAGATGGGAAGAATTGACAAAGTTAGATAAGGAAGCGAGACAGAGAGAAAGCCAGCAGATGAAGGAGAAGGCTAAGGAGAAGGACTCACCGAAGGAGAAGAGCGTGCGAGAGAGAGAGGTGCCGATTAGTCTAGAAGTATCCCAGGACAGAAGAGCAGAGGTGTCCCCGAAAGGTTTGCAGACGCCTGTGAAGGATGCTGGTGGTGGGACCGGTAGAGAGGCAGAAGCAAGAGAGCTACGGTTCAGGTTGGGCACCAGTGATGCCACTGGTTCTCTGCAAGGCGATTCCATGACAGAAACCGTAGCAGAAAACATCGTTACCAGTATCCTGAAGCAGTTCACTCAGTCTCCAGAGACAGAAGCATCTGCTGATTCTTTTCCAGACACAAAAGTCACTTACGTGGACAGGAAAGAGCTTCCTGGGGAAAGGAAAACAAAGACTGAAATAGTTGTGGAGTCTAAACTGACTGAGGATGTTGATGTTTCCGATGAAGCTGGCCTGGACTACCTTTTAAGCAAGGATATTAAGGAAGTGGGGCTGAAAGGCAAGTCAGCCGAGCAGATGATAGGAGACATCATCAACCTCGGCCTGAAAGGGAGGGAGGGGAGAGCAAAGGTCGTCAACGTGGAGATCGTGGAGGAGCCCGTGAGTTATGTCAGCGGGGAGAAGCCGGAGGAGTTTTCCGTCCCATTCAAAGTGGAGGAGGTCGAAGATGTGTCGCCAGGCCCCTGGGGGTTGGTTAAGGAGGAGGAAGGTTATGGAGAAAGCGATGTCACATTCTCAGTTAATCAGCATCGAAGGACCAAGCAGCCTCAGGAGAACACGACTCACGTGGAAGAAGTGACAGAGGCAGGTGATTCAGAGGGCGAGCAGAGTTATTTTGTGTCCACTCCAGATGAACACCCCGGGGGGCACGACAGAGATGACGGCTCGGTGTACGGGCAGATCCACATCGAGGAGGAATCCACCATCAGGTACTCTTGGCAGGATGAAATCGTGCAGGGGACTCGAAGGAGGACACAGAAGGACGGTGCAGTGGGCGAGAAGGTTGTGAAGCCCTTGGATGTCCCAGCGCCCTCTCTGGAGGGGGACCTGGGTTCCACTCACTGGAAAGAACAAGCTAGAAGCGGTGAATTTCATGCCGAACCCACAGTCATTGAAAAAGAAATTAAAATACCCCACGAATTCCACACCTCCATGAAGGGCATCTCCTCCAAGGAGCCCCGGCAGCAGCTGGTGGAGGTCATCGGGCAGCTGGAGGAAACCCTTCCCGAGCGCATGAGGGAGGAGCTGTCCGCCCTCACCAGAGAGGGGCAGGGTGGGCCGGGGAGCGTTTCCGTGGATGTCAAGAAGGTCCAGGGTGCTGGTGGCAGTTCCGTGACCCTGGTTGCTGAAGTCAACGTCTCACAAACTGTGGATGCCGATCGGTTAGACCTGGAGGAGCTGAGCAAAGATGAGGCCAGTGAGATGGAGAAGGCTGTGGAGTCGGTGGTTCGGGAGAGCCTGAGCAGGCAACGCAGCCCAGCGCCTGGCAGCCCAGATGAGGAAGGTGGAGCGGAGGCCCCGGCTGCTGGCATTCGCTTTAGGCGTTGGGCCACCCGGGAGCTGTACATCCCTTCAGGCGAGAGCGAGGTTGCTGGTGGGGCCTCTCACAGCTCGGGACAGCGCACTCCCCAGGGCCCAGTGTCGGCCACTGTGGAGGTCAGCAGCCCCACAGGCTTTGCCCAGTCACAGGTGCTGGAGGATGTGAGCCAGGCTGCAAGGCACATAAAACTCGGCCCCTCTGAAGTCTGGAGGACTGAGCGAATGTCATATGAAGGACCCACTGCAGAAGTGGTGGAGATGGATGTGAGTAACGTAGAGGCGATCCGCAGCCGGACACAGGAAGCGGGAGCTCTCGGTGTGTCTGACCGTGGTTCCTGGAGAGACGCGGACAGTAGGAATGACCAGGCAGTTGGTGTGAGCTTTAAGGCCTCTGCTGGGGAAGGAGACCAGGCCCACAGAGAACAGGGCAAGGAGCAGGCCATGTTTGATAAGAAGGTGCAGCTCCAGAGAATGGTAGACCAAAGGTCGGTGATTTCAGATGAAAAGAAAGTTGCCCTCCTCTATCTAGACAATGAGGAGGAGGAGAATGATGGGCATTGGTTTTAA

Amino sequence

MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALYSNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPKAGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMFDSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPVKDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKELPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVEEPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSEGEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEGDLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREGQGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSPDEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAARHIKLGPSEVWRTERMSYEGPTAEVVEMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQAVGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF*

ENST00000594047.2 SYNM

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