Special

HsaINT0000078 @ hg38

Intron Retention

Gene
Description
alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336]
Coordinates
chr12:8861135-8864008:+
Coord C1 exon
chr12:8861135-8861297
Coord A exon
chr12:8861298-8863793
Coord C2 exon
chr12:8863794-8864008
Length
2496 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
TTATGTTTCTTTTTCCATAGGAG
3' ss Score
10.83
Exon sequences
Seq C1 exon
GACCCAATGGTGAGTCAGGGTCTACGGTGTCTCAAGAATTCGGCCACCTCCACGACCAACCTCTACACACAGGCCCTGTTGGCTTACATTTTCTCCCTGGCTGGGGAAATGGACATCAGAAACATTCTCCTTAAACAGTTAGATCAACAGGCTATCATCTCAG
Seq A exon
GTATGTTGGTCCTGTTGAGAGTTCTTTGAAATTGTGAACATAAGCTGTGAGTTATCTATAATCTCCCTAGTAACCTCTGTCCCACACATGTACTCTAGGATTCATTTTAGTAACAGTTATTAAGTCATCAAATTATTGTTGGGAGGTTTGTGAGAAACACACGCAAGTGCTCAAAGGGCATTTTTATACTTTTTTTTCTTTTCTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTCCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCGAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACGCCCGAGTTTCTCTCTTCTTGCCCAAGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGATCAAGCAACTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGTGTGCCATCATGCACAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCGCCCTGTTGACCAGGGTGGTCTCGAATTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCACATTTTTATACTTTTAATGTGAAGAGAAACTACATTGAAGAAGCTAGTCGGAAAATATATTGGCATTGTGGAATCACCCTTTTGGAGATCTTTGAAAGTGCTTTGATGTAGGACCACTTTAAATATTTTTTAAATTTTTTATTTTACTTTTTATTTTTTTGAGACGGTGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTTTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACTGGCTAATCTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGAATCCTGACCTCAAGTGATCCGCCCCTCTTGGTCTTCCAAAGTGCTGAATTACAAGCGTGAGCCATTGCACCTGGCCTGGACCACTTTAAATATATTTAGAATACTATTTGAAGTATGACAGATCTTGTAAATAAAATTTTAATGCATTTCATTTATCTGGCTGTGTATTTAAAATTATTCTTCCAGGCAGAAGTGCAGTCTCAGCCTTCATTTATATGAGCGTCATGGCTGAGCTGTCCTCTCACAGGGGGTCAGGTAGTTTTTTCTCTTGTGTCTAAGCAACTCCAGTCATGAAATGTGTGTCCGAGACAATGGGTTAAATACACCTGTTCCACCGTGTATTGGTTTATTGTGATGATCTCTTTTCCATTATCTTGTATTGCAAGCTCACGTTTCCTGTTACGTTCTTCCAATTAGATTGCCCTTCTGTGGTTACTTATTATCTCTAAAATTCTGTTTAATTAGTCTTCTAACGTACAGTCTTCTCATTTCTTATTTATTTTTCTTCAAGTTATCCATTATCTGTCATCTTGGCTGTCACAGAGGTTTCTTTTGGTCTCATTCTATTGGACTGCCTTCTAAGCATGTTTCATATAGTTGGCCTCATTAGCATTTCTTCATGGTTTCTCAGAATTCTTTCATATACTCTGCCATTTTTATTCTACTTAAAATGTTAAATCTTTTTTTTTTTTTTGAGACTGGGTTTCGCTCTTGTTTTGTTGCCCAGGTTGGAGTGCATTGGCGTGATCTCAGTTCACCGCAACCTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAGAGGCACGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGTTAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCCACCGCACCCGGCCTAAATCTTTGATTAAATGAAATAAATGCTGAAAAATTCATAAAACTGTAAGCAAACAAAAATTGCCCCCAAACACAGAGATTCTTATAAGAAGCTTCTATTTACCTATTTCCATTAGCATCAAAACTGATAAATTAACAAGGGTGGTTTTCATGTAATTGCTGGAGGCAGGAACATTTATCGATGCTTCTAGCTTTACACACAGGCACGCACATGCATCCTTGCATTTACATCAAGGTCAATTAATCAGCTAAATCTAAGAAATTTTTTTTCTACTCTGTTTAATTCTCAGTTGGTACTTACTCTGCTCTAAGATGCTGCATTTACAAAGTGAATGTGGGAAAGCCAGTTCCTTCTAAGGACATCCTAGTTATGTTTCTTTTTCCATAG
Seq C2 exon
GAGAATCCATTTACTGGAGCCAGAAACCTACTCCATCATCGAACGCCAGCCCTTGGTCTGAGCCTGCGGCTGTAGATGTGGAACTCACAGCATATGCATTGTTGGCCCAGCTTACCAAGCCCAGCCTGACTCAAAAGGAGATAGCGAAGGCCACTAGCATAGTGGCTTGGTTGGCCAAGCAACACAATGCATATGGGGGCTTCTCTTCTACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166535:ENST00000299698:28
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=0.083
Domain overlap (PFAM):

C1:
PF076789=A2M_comp=FE(22.0=100)
A:
NA
C2:
PF076789=A2M_comp=FE(28.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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