Special

HsaINT0107891 @ hg38

Intron Retention

Gene
Description
myosin heavy chain 7B [Source:HGNC Symbol;Acc:HGNC:15906]
Coordinates
chr20:34991004-34993225:+
Coord C1 exon
chr20:34991004-34991121
Coord A exon
chr20:34991122-34993101
Coord C2 exon
chr20:34993102-34993225
Length
1980 bp
Sequences
Splice sites
5' ss Seq
GCGGTGGGT
5' ss Score
6.6
3' ss Seq
GCTCTGCCCTCCTTTCCCAGGTA
3' ss Score
11.12
Exon sequences
Seq C1 exon
GGGTCATGGATGCCTTCTTGGTGCTACACCAGCTGCGCTGCAATGGGGTCCTGGAGGGGATCCGGATCTGCCGCCAAGGGTTCCCCAACAGGTTGCTCTACACCGACTTCCGGCAGCG
Seq A exon
GTGGGTGACCCCTTCCCCCTGCCTGCTGCTCCAGGTGGAGGCCTGAGGGGCTGGGCAGGACACACATATCAGAGCCCAACAGACGGTCCCCTGTCTGGAGGGGGAAGCAGGGACTGTGAGGGGCCTGGCCAGGTATCCCAGCAAGACATGGGGGTGGCTCAGACCTGGCCGGGGACTTGGGGAGAAGTGAATAGGCTTGGGGCAAATAGTGGAGGTGGAGCCTACAGGCCTCGCTGATAAGCTGGACATGGAATTCTGGATGCAGAAAAGACGAATGATTTCTAGTTTTGGGAGTGAGCAACCTGGGAGCTACCAGTGGTAGATTTACTGAGCTACAAAAACAGGGTTTTTTGATTTGGAGGAGAGGTGAAGGGATACTGGTTTGAGCTCTGTTTTGCGTGTATCAGGTTTGAAATGCCTCCAGCAGACATCCTAGAAAAGTCATGGGGGAGATTGGGATTATCAATCTGGAGCTCAGGGCAGCGGGCAGAAAGGATGCAGATTTGGGAGTTGAACGAGAATCATGTGGACGAGGCTTCATGAGACACCTGGCACATAGCAAGCACCTGGGCAGTGCTGCCAGCTCCTCCCCGTTCCCTCAATGGGCAACAAGCATCCATCGTTCCTTCTCCCTCCAGAAGTCATGGTGTCATCCACACTATCCTTTGTAAACAGAGGTTCACACAGATACCATACACGCACACACACGCATGGTGCTGTGACCTTGTTTTTTCTAACAGTCTGGCCTGGAGATCGTTCCTTATCCCCAGGCGTATGCCTGCCATCGTCATCCGTTTTTCTTGGCTGTGAAACATCTCACAGTCTGGTGGACTGCATGCTTTGTTTAATGAGTCCCCCTCATGAGGGGCCTTCACAGCGTGGCTGTAGCCCACCTGACCCACACAGCCCTGTGCATGTGTCCACTTAGAAGTGGGCAGGCTGGGAGCCCTGGCTCTTTTGCATTAGAATTTCCCCCCAAATGGGCTGGGCGCGGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAATTTTCCCCCAAATGTTTCTTCAGTGATAGGGTACAGCATGTCACCTTCTACTAATATTTTTTGCCTTTAAAAAAATTTTAAAAATAGTGCATGCCTTCTGTAAAAAGCCTCTTTAAAAACTTAATGAATGCATTTAAAATCCCCCCAAGGTTGTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTTCTGAGGTTCAAGCGATTCTGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCCACTAATTTTTGTGTTTTTAGTAGAGATAGGGTTTCACCATGTTGCCCACGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACCCGCCTTGGCTTCCCAAAGTGTTGTGATTATGGGCGTGAGCCACCGCACCCAGCCAACCCCCCAGGGATTTTAAGTGGAGTGTCCCTAGTGTCCCAGTGTGGTGACGCATCCCTGGCCCCCTTGTTTGGCATGTGCCCTGCTGGAACCTCTGCACCAGCCTCGGAGAGGCCCAGGAACGAGTCCCCTGCTACCCACACGAGCCTCCTCAGTCCCTGACTTCCCCATTCTCAGTGGCCTGTGCCCCATACCCAGCCCTCTCCTGACCAGCTCTGCCCTCCTTTCCCAG
Seq C2 exon
GTACCGTATCCTGAACCCCAGTGCCATCCCGGATGACACCTTCATGGACAGCAGGAAGGCCACAGAGAAACTGCTGGGCTCGCTGGACTTGGATCACACCCAGTACCAGTTTGGCCACACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078814:ENST00000262873:22
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0006316=Myosin_head=FE(5.7=100)
A:
NA
C2:
PF0006316=Myosin_head=FE(6.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTCATGGATGCCTTCTTGG
R:
GTGTGGCCAAACTGGTACTGG
Band lengths:
238-2218
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development