Special

HsaINT0107453 @ hg38

Intron Retention

Gene
Description
myosin heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:7567]
Coordinates
chr17:10514868-10516082:-
Coord C1 exon
chr17:10515926-10516082
Coord A exon
chr17:10514896-10515925
Coord C2 exon
chr17:10514868-10514895
Length
1030 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
TTCCACTGTTTTTCTTCTAGATC
3' ss Score
11.18
Exon sequences
Seq C1 exon
ACCTACTCAGGCTTGTTCTGTGTCACTGTCAACCCCTACAAGTGGTTGCCAGTGTATAATGCAGAGGTGGTGACAGCCTACCGAGGCAAAAAGCGCCAGGAGGCCCCACCCCACATCTTCTCCATCTCTGACAATGCCTATCAGTTCATGCTGACTG
Seq A exon
GTGAGTGGCTCAGCTGGTTTTCATATGAATTATTTTACCATCCATAATCACAAAATATTAGAACTAAAAAAAGACCTTTAGAAAAAAACCCAATTCACGCCCCTGGTTGTTCAGCAGAGGTGACTAAAGCACAGAGAAGTATATACTGTCAAAGCTCGTATTAAAACACAGCTCTCCTGATTACACCTCACTGACTTTACTAGGCCATGCTATTACTCCATCCCATTAAGTTTAATTTGTTTATGGTCTCCTTGCTTGGAAACACACAATTTATTTTATATATTTAAGTAATAAGAGCCAAGATTAAGTAACAACTGAATCATATAAATCATGTATTATCTGAATAGAAATGAAAAATAGGAGTTCAATCCTTTTGGTGCCTCAGTTTCTTGTTAATTATAAATTAGATTCTTTTACAAGTACTGTCATCTCTTTAAAGTTATCAGAGTACATCTCAGATATAATATCCTCTGTTTGAATGAAGATGATGTTTTGGGGCTACACACATATAAACAGAAATTGTTTTCCCCCCTTAGAAAGATTTTATTTTGATTGAGGCATCCTCTCTTACCTCATCTTTCTTTAACACAATGGTACACTTTGGGGAAGGCTGATCGAAGTTAGGGCTATATTGAAGTTAGTCTGTGGCCATAAGATAGTAAATTTTTTCTCTTTGTGAAGTCATCTGACACATTTAGAAACAAAATCTCAGTCATGGCTTGATTAACACTATTTCAATCTATTAAATAATAGTCCAAGCCTTTAGCATATTATGCATTTTTCAGCTATATGCATTAATTAGCAGATAGCATGCCATTGAAATCTACAGATGACAACTACGGAATGTATCTAGCTTTGGAGAATACTGCTCTTTATATTAAACCAGCAGGACACACCCATAACTTTACCATAATATATTGAAAAACCCCACTGAATACATGACACTTATACTCAAATGCCCTGTTTCACTATAGAAAGTTTTGTTTGTGTAACTGATACATATGCTGATTTTCCACTGTTTTTCTTCTAG
Seq C2 exon
ATCGGGAGAATCAGTCTATCTTGATCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061:ENST00000226207:5
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=0.100
Domain overlap (PFAM):

C1:
PF0006316=Myosin_head=FE(7.6=100)
A:
NA
C2:
PF0006316=Myosin_head=FE(1.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTACTCAGGCTTGTTCTGTGT
R:
TGATCAAGATAGACTGATTCTCCCGA
Band lengths:
183-1213
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development