| Transcript | Transcript 1: ENST00000458173.4, Transcript 2: ENST00000954371.1, Transcript 3: ENST00000382936.8, Transcript 4: ENST00000303277.6, Transcript 5: ENST00000874437.1, Transcript 6: ENST00000874438.1, Transcript 7: ENST00000460722.1, Transcript 8: ENST00000476253.1 |
|---|
| Transcript 1 Gene Id | ENSG00000013810.22 |
|---|
| Transcript 1 Gene Name | TACC3 |
|---|
| Transcript 1 Region | intron |
|---|
| Transcript 1 Impact | intronic_insertion |
|---|
| Transcript 2 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 2 Gene Name | TMEM129 |
|---|
| Transcript 2 Region | intron |
|---|
| Transcript 2 Impact | intronic_insertion |
|---|
| Transcript 3 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 3 Gene Name | TMEM129 |
|---|
| Transcript 3 Region | intron |
|---|
| Transcript 3 Impact | intronic_insertion |
|---|
| Transcript 4 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 4 Gene Name | TMEM129 |
|---|
| Transcript 4 Region | intron |
|---|
| Transcript 4 Impact | intronic_insertion |
|---|
| Transcript 5 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 5 Gene Name | TMEM129 |
|---|
| Transcript 5 Region | CDS |
|---|
| Transcript 5 Impact | stop_gained |
|---|
| Transcript 5 Frameshift | True |
|---|
| Transcript 5 Stop Gained | True |
|---|
| Transcript 5 Protein Change From Aa0 | 89 |
|---|
| Transcript 6 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 6 Gene Name | TMEM129 |
|---|
| Transcript 6 Region | intron |
|---|
| Transcript 6 Impact | intronic_insertion |
|---|
| Transcript 7 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 7 Gene Name | TMEM129 |
|---|
| Transcript 7 Region | intron |
|---|
| Transcript 7 Impact | intronic_insertion |
|---|
| Transcript 8 Gene Id | ENSG00000168936.13 |
|---|
| Transcript 8 Gene Name | TMEM129 |
|---|
| Transcript 8 Region | exon_non_coding |
|---|
| Transcript 8 Impact | noncoding_exon_insertion |
|---|
|
| SpliceAI Score |
| Delta Scores | Acceptor Gain: 0.020 | Acceptor Loss: 0.090 | Donor Gain: 0.070 | Donor Loss: 0.010 |
|---|
| Delta Score Max | 0.090 |
|---|
| Delta Position at Max | -52 |
|---|
| Delta Score Flag | LOW |
|---|
| Gene | TMEM129 |
|---|
| Altered Protein (FASTA) | >Transcript_5|ENST00000874437.1 MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATL
LCHSLLPLVLCGHVPCGFRKAAPRPQPGP*GLAALPAAGRDPPLHRLHPDLLLVP*PVGL
PPTGAHPGPLRPPTVWLAGCCLLCQH*VPAD*QVCHRCTRCPCDCDRHVGDEGNHLPSAR
GPAAGRAPDCDGVSAA*ALARLELARAAPHHPCGQHQPCCAGL*HLCVEPSGWTAALLLG
PPRAQAGLSGTGSVGSGLRAISPGWSWCDSCPCHSLGCSLHLPLPLPCRGAQQLSSLQAE
LH*VRGALREAPGTHPQGSPCGHPPEPGRPVPGDICLPGRGQPGLLSAQQPGAGGLHRLH
ADTCQREAGEDLPGGSHRRVPAVLLPPHVVPHLHGQVVRQPPGPPAP*HLAGQPRALPHL
PRTLLHPGCVHRA |
|---|
|
| AlphaGenome Analysis |
| Window | chr4:1652219-1783291 |
|---|
| RNA-seq Change (±2kb) | Mean: 0.004629701375961304 | Peak: 11.65625 |
|---|
| ATAC Change (±2kb) | Mean: -0.0022818492725491524 | Peak: 6.8125 |
|---|
| Interpretation | RNA-seq: minimal change 0.8% | Splice sites: no signal in region (REF≈0, ALT≈0) | ATAC: minimal change -2.5% |
|---|
| Visualization | |
|---|