HsaINT0098149 @ hg38
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39427455-39428287:+
Coord C1 exon
chr1:39427455-39427614
Coord A exon
chr1:39427615-39427960
Coord C2 exon
chr1:39427961-39428287
Length
346 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
3' ss Seq
TTTTCCATCTGGATTTCCAGGCT
3' ss Score
7.09
Exon sequences
Seq C1 exon
GCAAAAACAGCTGGAAGACATCCTGGTTCTGGCCAAACAGTTCCATGAGACAGCTGAGCCTATTTCTGACTTCTTATCTGTCACAGAGAAAAAGCTTGCTAACTCAGAACCTGTTGGCACTCAGACTGCCAAAATACAGCAGCAGATCATTCGGCACAAG
Seq A exon
GTAGGGAGTGGTTACAGTAAATGAAAATAGAAAACTGGAATTAGAAATCCTAGAAATGAGTAAACTGCCTGCAGCATTCTAGAGGATGTGTGTTTTGTGGGTTTAACTTAAAATATGGTCAGATTATTAATTGGAAAAGTCACATTCTTGAAATACAAATAGAAATTGACTGATAGGCTACCACCGGAATAAACAGCTTTTGTTCCCAATTTTTATATTATTTTTGCCTTTCAGTCGGTGAGTTTTTTAATTGTTTAATTTGTTGTATCATTTGTTATTCATCATTTTGTGTTTACTTTTCATTTATTTTGTTTCTGTTATTCATTTTTTCCATCTGGATTTCCAG
Seq C2 exon
GCTCTGGAAGAAGACATAGAAAACCATGCAACAGATGTGCACCAGGCAGTCAAAATTGGGCAGTCCCTCTCCTCCCTGACATCTCCTGCAGAACAGGGTGTGCTGTCAGAAAAGATAGACTCATTGCAGGCCCGATACAGTGAAATTCAAGACCGCTGTTGTCGGAAGGCAGCCCTACTTGACCAAGCTCTGTCTAATGCTAGGCTGTTTGGGGAGGATGAGGTGGAGGTGCTCAACTGGCTGGCTGAGGTTGAGGACAAGCTCAGTTCAGTGTTCGTAAAGGATTTCAAACAGGATGTCCTGCACAGGCAGCATGCTGACCACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603:ENST00000361689:56
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.088 A=NA C2=0.011
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(5.6=11.1),PF0043516=Spectrin=PU(41.1=81.5)
A:
NA
C2:
PF0043516=Spectrin=PD(57.0=56.0),PF0043516=Spectrin=PU(41.1=40.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCCATGAGACAGCTGAGCC
R:
CTCCACCTCATCCTCCCCAAA
Band lengths:
349-695
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