Special

HsaINT0105976 @ hg38

Intron Retention

Gene
Description
metal response element binding transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:29535]
Coordinates
chr1:93114988-93115618:+
Coord C1 exon
chr1:93114988-93115088
Coord A exon
chr1:93115089-93115469
Coord C2 exon
chr1:93115470-93115618
Length
381 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAT
5' ss Score
7.84
3' ss Seq
TTTTTTTCCCTCTAATGTAGAGG
3' ss Score
8.29
Exon sequences
Seq C1 exon
GATATCATCAGTTGTGTCACACACCTCATATTGATTCCAGTGTGATTGATTCAGATGAAAAATGGCTCTGTCGGCAGTGTGTTTTTGCAACAACAACAAAG
Seq A exon
GTATATTTTAAGTGTTTTGGGCTAAAGCTCTGATGGAATTTGTAAGACATTATCAACATAATGATTGTGTACACTGAAAGTTTGTTGGAATGAAATGAGCAATGAATGCTGGGTAGAAAGAGGTGCTATTTATTTGACTAATGATGCTTAAGTGACTTTTTAATGATGCTTTCACTTATTTGATGATAGTAATACGGGAATTGGTGCAGTAATTTGAAAGAAGAAAAGAAAAATAGAGATTATTATTAATCAGACAGTTTGTGATATGGTAAAAGTTTGGAAAGGAAATTTCTCCAGAAGTGTCAGAGTCGTTTTTAAAGTATAGAATTGTGTTTAAAATTTTAGCCTTCACTCTTTCACATTTTTTTCCCTCTAATGTAG
Seq C2 exon
AGGGGTGGTGCACTTAAGAAAGGACCAAATGCCAAAGCATTGCAAGTCATGAAGCAGACATTACCCTATAGTGTGGCAGACCTTGAATGGGATGCAGGTCATAAAACCAATGTCCAGCAGTGTTACTGCTATTGTGGAGGCCCTGGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143033:ENST00000370298:5
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=0.000
Domain overlap (PFAM):

C1:
PF144461=Prok-RING_1=PD(44.7=61.8),PF0062824=PHD=PD(53.7=85.3)
A:
NA
C2:
PF0062824=PHD=PU(15.1=16.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATATCATCAGTTGTGTCACACAC
R:
TCTCCAGGGCCTCCACAATAG
Band lengths:
250-631
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