ENST00000595535.5 SPTBN4

Information
Transcript ID
ENST00000595535.5
Genome
hg38
Position
chr19:40,466,241-40,560,507
Strand
+
CDS length
6,009
Amino acid length
2,003
Gene symbol
SPTBN4
Gene type
protein-coding
Gene description
spectrin beta, non-erythrocytic 4
Gene Entrez Gene ID
57731
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 40,466,241 40,466,311
2 40,472,607 40,472,790
3 40,487,697 40,487,848
4 40,490,075 40,490,248
5 40,492,963 40,493,054
6 40,494,897 40,494,977
7 40,497,489 40,497,604
8 40,501,921 40,502,033
9 40,502,128 40,502,315
10 40,502,390 40,502,507
11 40,502,775 40,502,933
12 40,503,830 40,504,132
13 40,506,236 40,506,386
14 40,512,606 40,513,554
15 40,515,311 40,515,448
16 40,519,401 40,520,151
17 40,523,437 40,523,639
18 40,529,041 40,529,131
19 40,532,625 40,532,771
20 40,534,080 40,534,343
21 40,549,189 40,549,413
22 40,550,238 40,550,327
23 40,554,147 40,554,425
24 40,554,516 40,554,646
25 40,556,084 40,556,288
26 40,557,023 40,557,403
27 40,560,159 40,560,507
CDS
Exon number Type Start Stop
2 CDS 40,472,622 40,472,790
3 CDS 40,487,697 40,487,848
4 CDS 40,490,075 40,490,248
5 CDS 40,492,963 40,493,054
6 CDS 40,494,897 40,494,977
7 CDS 40,497,489 40,497,604
8 CDS 40,501,921 40,502,033
9 CDS 40,502,128 40,502,315
10 CDS 40,502,390 40,502,507
11 CDS 40,502,775 40,502,933
12 CDS 40,503,830 40,504,132
13 CDS 40,506,236 40,506,386
14 CDS 40,512,606 40,513,554
15 CDS 40,515,311 40,515,448
16 CDS 40,519,401 40,520,151
17 CDS 40,523,437 40,523,639
18 CDS 40,529,041 40,529,131
19 CDS 40,532,625 40,532,771
20 CDS 40,534,080 40,534,343
21 CDS 40,549,189 40,549,413
22 CDS 40,550,238 40,550,327
23 CDS 40,554,147 40,554,425
24 CDS 40,554,516 40,554,646
25 CDS 40,556,084 40,556,288
26 CDS 40,557,023 40,557,403
27 CDS 40,560,159 40,560,497
Other genome
Genome Chromosome Start End Links
hg19 chr19 40,972,148 41,066,413 Link
CDS sequence
ATGGCGCAGGTACCAGGGGAAGTGGACAACATGGAGGGCCTGCCTGCTCCTAACAACAACCCTGCTGCCCGCTGGGAGAGTCCGGATCGGGGCTGGGAGCGGGAGCAGCCGGCTGCGTCCACCGCAGCGGCCTCGCTCTTTGAGTGCTCCCGGATCAAGGCCTTGGCAGATGAGCGGGAAGCCGTGCAGAAGAAAACCTTCACCAAGTGGGTGAACTCGCACCTCGCCCGCGTGGGCTGCCACATCGGGGACCTCTATGTGGACCTCCGGGACGGCTTCGTGCTCACGCGGCTCCTGGAAGTGCTGTCTGGGGAGCAGCTGCCCAGGCCCACGCGCGGCCGCATGCGGATCCACTCACTGGAGAACGTGGACAAGGCGCTGCAGTTTCTGAAGGAGCAGCGCGTGCACCTGGAGAACGTGGGTTCGCATGACATCGTGGATGGGAATCACCGGCTGACGCTGGGGCTGGTCTGGACCATCATCCTGCGCTTCCAGATTCAAGTCATCAAAATTGAGACTGAGGACAACAGAGAGACACGCTCAGCCAAGGATGCTCTGCTCTTGTGGTGTCAGATGAAGACAGCTGGTTACCCTGAGGTAAACATCCAGAATTTCACCACCAGCTGGCGGGATGGCTTGGCCTTCAATGCCCTCATTCACCGGCACAGGCCTGATCTCGTGGACTTCAGCAAACTCACCAAGTCCAATGCCAACTACAACCTGCAGAGAGCCTTCCGCACAGCTGAGCAGCACCTGGGGCTGGCGCGGCTGCTGGATCCTGAAGATGTGAACATGGAGGCTCCAGATGAGAAGTCCATCATCACCTACGTGGTCTCTTTCTACCACTATTTCTCCAAGATGAAGGCTCTGGCTGTGGAGGGGAAGCGTATCGGGAAGGTCTTGGACCAGGTATTGGAGGTGGGGAAGATCATAGAACGCTACGAGGAGCTGGCGGCTGAGCTGCTGGCCTGGATCCACCGCACCGTGGGCCTCATCAGCAATCAGAAATTTGCCAACTCCTTAAGTGGGGTGCAGCAGCAACTCCAGGCTTTCACGGCCTATTGCACGCTGGAGAAGCCTGTCAAGTTCCAGGAGAAGGGGAACCTAGAGGTGCTGCTCTTCAGCATCCAGAGCAAACTGCGTGCCTGCAACCGTCGCCTCTTTGTGCCTCGGGAGGGCTGTGGCATCTGGGATATTGACAAGGCATGGGGTGAGCTGGAGAAGGCTGAGCATGAGCGGGAGGCTGCCCTACGGGCTGAGCTGATTCGGCAGGAGAAGCTGGAACTACTGGCACAGAGGTTTGACCACAAGGTGGCTATGAGGGAGAGCTGGCTGAATGAGAACCAGCGTCTGGTCTCCCAGGACAACTTTGGGTATGAGCTGCCCGCAGTGGAGGCAGCCATGAAGAAACACGAAGCGATCGAGGCAGACATTGCGGCCTACGAGGAGCGGGTGCAGGGTGTGGCGGAGCTGGCCCAGGCATTGGCAGCCGAAGGCTACTACGATATCCGGCGGGTGGCAGCCCAGCGTGACAGCGTCCTGCGCCAGTGGGCCCTGCTAACTGGGCTTGTGGGTGCCCGGCGGACACGACTTGAGCAGAACCTTGCCCTGCAGAAGGTCTTCCAGGAGATGGTGTACATGGTGGACTGGATGGAGGAGATGCAGGCTCAGCTGCTGTCCCGGGAGTGTGGGCAGCACCTGGTGGAGGCAGACGACCTGTTGCAGAAGCATGGACTGCTGGAGGGAGACATTGCCGCCCAGAGCGAGCGGGTGGAGGCTCTCAATGCCGCTGCCCTGCGCTTCTCCCAGCTGCAGGGCTACCAGCCCTGCGACCCGCAGGTCATCTGCAACCGCGTGAACCACGTGCACGGCTGCCTGGCGGAGCTGCAGGAGCAGGCAGCGCGGCGACGCGCGGAGCTGGAGGCTTCGCGGAGCCTGTGGGCGCTGCTGCAGGAGCTGGAGGAGGCCGAGAGCTGGGCGCGCGACAAGGAGCGTCTCCTGGAGGCTGCGGGCGGCGGCGGTGCGGCGGGCGCAGCGGGCGCAGCGGGAACAGCGGGCGGCGCGCATGACCTGTCCAGCACAGCGCGCCTCCTGGCCCAGCACAAGATCCTGCAGGGCGAGCTGGGCGGGCGGCGAGCGTTGCTGCAGCAGGCCCTGCGGTGTGGCGAGGAGCTGGTTGCGGCCGGCGGTGCCGTCGGCCCGGGAGCAGACACCGTGCACCTGGTAGGCCTGGCGGAGCGCGCGGCGAGCGCCCGGCGCCGCTGGCAGAGGCTGGAAGAGGCGGCGGCGCGGCGAGAGCGGCGGCTGCAGGAGGCGCGGGCGCTGCACCAGTTCGGCGCTGACCTCGACGGGCTGCTGGACTGGCTTCGCGACGCTTACCGCCTGGCAGCCGCCGGTGACTTCGGCCACGACGAAGCTTCCAGCCGCCGCCTGGCGCGCCAGCACCGCGCGCTCACCGGGGAGGTGGAGGCACATCGCGGGCCCGTGAGCGGCCTGCGGCGCCAGCTGGCGACACTCGGGGGTGCCAGTGGCGCAGGGCCACTGGTGGTGGCGCTGCAGGTGCGCGTGGTGGAAGCAGAGCAGTTGTTCGCTGAGGTGACCGAAGTGGCGGCGCTGAGGCGCCAGTGGCTGCGGGACGCGCTCGCTGTCTACCGCATGTTTGGCGAGGTGCACGCGTGTGAGCTGTGGATCGGCGAGAAGGAGCAATGGCTGCTCTCCATGCGTGTGCCGGATTCACTCGACGACGTCGAGGTGGTGCAGCACCGATTCGAGAGCCTGGACCAAGAGATGAACAGCCTGATGGGCCGCGTTCTGGACGTGAACCACACAGTCCAGGAGCTGGTGGAAGGAGGCCACCCCAGTTCAGATGAGGTGCGTTCCTGCCAGGACCACCTCAACAGCAGGTGGAACCGCATCGTGGAGCTAGTGGAACAGCGCAAAGAGGAAATGAGCGCGGTGCTGCTGGTGGAGAACCACGTGCTGGAGGTGGCCGAGGTGCGCGCCCAGGTGCGTGAGAAGCGGAGAGCTGTGGAGAGCGCGCCCCGGGCCGGCGGCGCCCTGCAGTGGCGTCTTAGCGGCCTAGAGGCCGCTCTGCAGGCGCTGGAGCCGCGCCAGGCGGCCCTTCTGGAGGAGGCAGCCCTGCTGGCTGAGCGCTTCCCGGCGCAGGCGGCGCGGCTGCACCAGGGCGCGGAGGAGCTGGGCGCCGAGTGGGGCGCGCTAGCTAGCGCGGCTCAGGCCTGCGGCGAGGCGGTGGCGGCAGCAGGGCGCCTGCAGCGCTTCCTACATGACCTCGACGCTTTCCTGGACTGGCTCGTGCGCGCCCAGGAGGCGGCGGGCGGCAGCGAGGGGCCCCTGCCCAACAGCCTAGAAGAGGCGGACGCGCTGCTGGCGCGCCACGCTGCGCTCAAGGAGGAGGTGGACCAGCGCGAGGAAGACTATGCTCGCATCGTGGCGGCCAGCGAGGCGCTGCTGGCCGCCGACGGCGCAGAGCTGGGCCCGGGCCTGGCACTAGACGAGTGGCTGCCACACCTCGAACTTGGCTGGCATAAACTGCTCGGCTTGTGGGAGGCGCGCAGGGAGGCGCTGGTCCAGGCGCACATCTACCAGCTCTTCCTGCGGGATCTACGCCAGGCGCTCGTGGTGCTGCGTAACCAGGAGATGGCGCTGTCTGGTGCGGAGCTCCCGGGCACAGTGGAATCGGTGGAGGAGGCCTTGAAACAGCACCGTGACTTTCTCACCACCATGGAGCTGAGCCAGCAAAAGATGCAGGTGGCCGTGCAGGCTGCAGAGGGCCTGCTGAGGCAGGGCAACATCTACGGGGAGCAGGCTCAGGAGGCTGTGACCCGGCTGCTGGAGAAGAACCAAGAAAACCAGTTACGGGCCCAGCAATGGATGCAAAAGCTACATGACCAACTTGAGCTGCAGCACTTCCTCCGAGACTGCCACGAGCTGGATGGCTGGATCCATGAGAAGATGCTGATGGCGCGGGATGGCACGCGGGAGGACAACCACAAGCTGCATAAGAGATGGCTCCGGCACCAGGCATTCATGGCCGAGCTGGCTCAGAATAAGGAGTGGCTGGAGAAGATCGAGCGGGAGGGCCAGCAACTGATGCAGGAGAAGCCCGAACTGGCGGCCTCCGTGCGGAAGAAGCTGGGCGAGATCCGCCAGTGCTGGGCGGAGCTGGAGAGCACCACCCAGGCCAAGGCACGGCAGCTCTTTGAGGCCAGCAAAGCAGACCAGCTGGTGCAGAGCTTTGCTGAGCTGGACAAGAAGCTCCTTCACATGGAGAGCCAGCTGCAAGACGTGGACCCTGGAGGAGACCTGGCCACTGTCAACAGTCAGCTCAAGAAGCTGCAGTCCATGGAGTCGCAGGTGGAGGAGTGGTACCGCGAGGTGGGAGAGCTGCAGGCGCAGACGGCGGCGCTGCCGCTGGAGCCGGCGAGCAAGGAGCTGGTGGGTGAGCGGCAGAACGCGGTGGGCGAGCGCCTGGTGCGCCTGCTCGAGCCGTTGCAGGAGCGCCGCCGCTTGCTGCTGGCTTCCAAGGAGTTGCACCAGGTGGCGCACGACCTGGACGACGAGCTGGCATGGGTTCAGGAGCGGCTGCCACTGGCCATGCAGACAGAGCGAGGCAACGGTTTGCAGGCGGTCCAGCAGCACATCAAAAAGAACCAGGGCCTGCGGCGGGAGATCCAGGCGCATGGGCCGCGCCTGGAGGAGGTGCTGGAGCGCGCGGGCGCGCTGGCGTCGCTGCGCAGCCCGGAGGCAGAGGCAGTGCGCCGGGGCCTGGAGCAGCTGCAGAGCGCCTGGGCCGGACTGCGGGAGGCTGCCGAGCGACGGCAGCAGGTGCTGGACGCCGCCTTCCAGGTGGAGCAGTACTACTTCGACGTGGCTGAGGTGGAGGCGTGGCTGGGCGAGCAGGAGCTGCTCATGATGAGTGAGGACAAGGGCAAGGACGAACAGAGCACCCTGCAGCTGCTCAAGAAACACCTGCAGCTGGAGCAAGGCGTGGAGAACTACGAGGAAAGCATCGCGCAGCTGTCGCGCCAGTGCCGGGCGCTGCTGGAGATGGGGCACCCGGACAGCGAGCAGATCAGCCGGCGGCAGTCTCAGGTGGACCGCCTGTACGTGGCGCTCAAGGAGCTGGGTGAGGAGCGCCGGGTGGCTCTGGAACAGCAGTACTGGCTGTACCAGCTCAGCCGCCAGGTGAGCGAGCTTGAGCACTGGATTGCCGAGAAGGAGGTGGTGGCTGGCTCACCCGAGCTCGGCCAGGACTTTGAGCATGTCTCGGTGCTGCAGGAGAAATTCTCAGAGTTTGCCAGCGAGACAGGTATGGCAGGGCGGGAACGGCTGGCAGCTGTGAACCAGATGGTGGATGAGCTGATCGAGTGTGGCCATACAGCAGCGGCCACCATGGCCGAGTGGAAGGACGGACTGAACGAGGCCTGGGCTGAGCTGCTGGAGCTCATGGGCACACGGGCCCAGCTGCTGGCCGCCTCTCGGGAGCTTCATAAGTTCTTCAGTGACGCCCGAGAGCTTCAGGGACAGATTGAGGAGAAGCGGAGGCGGCTGCCCCGCCTGACCACCCCGCCTGAGCCGAGACCCAGTGCCAGTTCCATGCAGCGGACCCTGAGAGCCTTTGAGCATGACCTGCAGCTCCTCGTGTCCCAGGTACGGCAGCTGCAGGAGGGGGCGGCCCAGCTGCGGACGGTGTATGCGGGTGAACATGCCGAGGCCATCGCTAGCCGGGAGCAGGAGGTGCTGCAGGGTTGGAAAGAGCTGCTGTCAGCCTGTGAGGATGCCCGCCTGCATGTCAGCTCCACAGCCGACGCCCTGCGCTTCCACAGCCAAGTCCGCGACCTGCTCTCCTGGATGGATGGCATCGCCAGCCAGATTGGGGCAGCCGACAAGCCCAGGTGCCCCTCATCCCTCCTCGGGCTTCCTGCCTCCCCCTGGTGGCCTACCCCAGCCACCCCCAGCCCATTGACAGCCCCCTTCTCAATGGAATGA
Amino sequence
MAQVPGEVDNMEGLPAPNNNPAARWESPDRGWEREQPAASTAAASLFECSRIKALADEREAVQKKTFTKWVNSHLARVGCHIGDLYVDLRDGFVLTRLLEVLSGEQLPRPTRGRMRIHSLENVDKALQFLKEQRVHLENVGSHDIVDGNHRLTLGLVWTIILRFQIQVIKIETEDNRETRSAKDALLLWCQMKTAGYPEVNIQNFTTSWRDGLAFNALIHRHRPDLVDFSKLTKSNANYNLQRAFRTAEQHLGLARLLDPEDVNMEAPDEKSIITYVVSFYHYFSKMKALAVEGKRIGKVLDQVLEVGKIIERYEELAAELLAWIHRTVGLISNQKFANSLSGVQQQLQAFTAYCTLEKPVKFQEKGNLEVLLFSIQSKLRACNRRLFVPREGCGIWDIDKAWGELEKAEHEREAALRAELIRQEKLELLAQRFDHKVAMRESWLNENQRLVSQDNFGYELPAVEAAMKKHEAIEADIAAYEERVQGVAELAQALAAEGYYDIRRVAAQRDSVLRQWALLTGLVGARRTRLEQNLALQKVFQEMVYMVDWMEEMQAQLLSRECGQHLVEADDLLQKHGLLEGDIAAQSERVEALNAAALRFSQLQGYQPCDPQVICNRVNHVHGCLAELQEQAARRRAELEASRSLWALLQELEEAESWARDKERLLEAAGGGGAAGAAGAAGTAGGAHDLSSTARLLAQHKILQGELGGRRALLQQALRCGEELVAAGGAVGPGADTVHLVGLAERAASARRRWQRLEEAAARRERRLQEARALHQFGADLDGLLDWLRDAYRLAAAGDFGHDEASSRRLARQHRALTGEVEAHRGPVSGLRRQLATLGGASGAGPLVVALQVRVVEAEQLFAEVTEVAALRRQWLRDALAVYRMFGEVHACELWIGEKEQWLLSMRVPDSLDDVEVVQHRFESLDQEMNSLMGRVLDVNHTVQELVEGGHPSSDEVRSCQDHLNSRWNRIVELVEQRKEEMSAVLLVENHVLEVAEVRAQVREKRRAVESAPRAGGALQWRLSGLEAALQALEPRQAALLEEAALLAERFPAQAARLHQGAEELGAEWGALASAAQACGEAVAAAGRLQRFLHDLDAFLDWLVRAQEAAGGSEGPLPNSLEEADALLARHAALKEEVDQREEDYARIVAASEALLAADGAELGPGLALDEWLPHLELGWHKLLGLWEARREALVQAHIYQLFLRDLRQALVVLRNQEMALSGAELPGTVESVEEALKQHRDFLTTMELSQQKMQVAVQAAEGLLRQGNIYGEQAQEAVTRLLEKNQENQLRAQQWMQKLHDQLELQHFLRDCHELDGWIHEKMLMARDGTREDNHKLHKRWLRHQAFMAELAQNKEWLEKIEREGQQLMQEKPELAASVRKKLGEIRQCWAELESTTQAKARQLFEASKADQLVQSFAELDKKLLHMESQLQDVDPGGDLATVNSQLKKLQSMESQVEEWYREVGELQAQTAALPLEPASKELVGERQNAVGERLVRLLEPLQERRRLLLASKELHQVAHDLDDELAWVQERLPLAMQTERGNGLQAVQQHIKKNQGLRREIQAHGPRLEEVLERAGALASLRSPEAEAVRRGLEQLQSAWAGLREAAERRQQVLDAAFQVEQYYFDVAEVEAWLGEQELLMMSEDKGKDEQSTLQLLKKHLQLEQGVENYEESIAQLSRQCRALLEMGHPDSEQISRRQSQVDRLYVALKELGEERRVALEQQYWLYQLSRQVSELEHWIAEKEVVAGSPELGQDFEHVSVLQEKFSEFASETGMAGRERLAAVNQMVDELIECGHTAAATMAEWKDGLNEAWAELLELMGTRAQLLAASRELHKFFSDARELQGQIEEKRRRLPRLTTPPEPRPSASSMQRTLRAFEHDLQLLVSQVRQLQEGAAQLRTVYAGEHAEAIASREQEVLQGWKELLSACEDARLHVSSTADALRFHSQVRDLLSWMDGIASQIGAADKPRCPSSLLGLPASPWWPTPATPSPLTAPFSME*