ENST00000430487.6 GTF2A1L
Information
- Transcript ID
- ENST00000430487.6
- Genome
- hg38
- Position
- chr2:48,617,798-48,679,605
- Strand
- +
- CDS length
- 1,335
- Amino acid length
- 445
- Gene symbol
- GTF2A1L
- Gene type
- protein-coding
- Gene description
- general transcription factor IIA subunit 1 like
- Gene Entrez Gene ID
- 11036
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 1 | 48,617,798 | 48,617,895 |
| 2 | 48,621,167 | 48,621,290 |
| 3 | 48,642,402 | 48,642,457 |
| 4 | 48,645,033 | 48,645,117 |
| 5 | 48,646,453 | 48,647,042 |
| 6 | 48,669,722 | 48,669,982 |
| 7 | 48,671,591 | 48,671,680 |
| 8 | 48,679,335 | 48,679,605 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 48,617,875 | 48,617,895 |
| 2 | CDS | 48,621,167 | 48,621,290 |
| 3 | CDS | 48,642,402 | 48,642,457 |
| 4 | CDS | 48,645,033 | 48,645,117 |
| 5 | CDS | 48,646,453 | 48,647,042 |
| 6 | CDS | 48,669,722 | 48,669,982 |
| 7 | CDS | 48,671,591 | 48,671,680 |
| 8 | CDS | 48,679,335 | 48,679,442 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr2 | 48,844,937 | 48,906,744 | Link |
CDS sequence
ATGGCCTGCCTCAACCCGGTGCTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAGCATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTGGGCACTTCAAACTCCAGTGCAAACTTTACTTTTCCTGGTTATCCCATTCATGTACCAGCAGGTGTGACACTACAGACTGTATCTGGTCACCTTTATAAAGTCAATGTACCAATTATGGTGACAGAGACTTCTGGAAGAGCAGGTATTCTTCAGCATCCAATTCAGCAAGTATTTCAACAGCTTGGCCAGCCTTCAGTAATACAAACTAGTGTTCCACAATTGAATCCATGGTCTCTTCAAGCAACTACTGAAAAATCACAGAGAATTGAAACCGTGCTACAGCAACCCGCAATTCTACCTTCTGGGCCAGTAGATAGGAAACACTTAGAAAATGCCACCAGTGATATACTTGTATCTCCTGGAAATGAGCATAAAATCGTGCCTGAAGCTTTGTTGTGTCATCAGGAAAGTTCTCACTATATCAGTCTTCCAGGTGTTGTATTTTCTCCACAGGTCTCTCAAACAAATTCTAATGTGGAGTCAGTGCTCAGTGGTTCAGCTAGCATGGCTCAAAATCTGCATGATGAGTCCCTCTCCACAAGCCCTCATGGGGCTCTCCACCAGCACGTGACTGATATTCAGCTTCATATTCTTAAAAATAGGATGTATGGATGTGATTCTGTAAAGCAACCAAGAAATATAGAGGAACCCAGCAACATACCTGTATCAGAGAAGGATTCTAATTCTCAGGTGGATTTAAGCATTCGGGTTACTGATGATGATATTGGTGAAATAATTCAAGTAGATGGAAGCGGTGATACATCTTCCAATGAAGAAATAGGAAGTACAAGAGATGCAGATGAGAATGAATTTCTAGGGAATATTGACGGGGGAGATCTGAAGGTACCTGAAGAAGAAGCTGACAGTATTTCAAATGAGGATTCAGCCACAAACAGTAGTGATAATGAAGACCCTCAAGTAAACATTGTAGAAGAGGACCCTTTAAATTCTGGAGATGATGTTAGTGAACAGGATGTGCCAGACCTGTTTGACACGGATAATGTTATTGTCTGTCAGTATGATAAGATTCATCGAAGCAAGAACAAATGGAAATTCTATTTGAAAGATGGTGTTATGTGTTTTGGAGGGAGAGACTATGTATTTGCAAAAGCCATTGGTGATGCAGAGTGGTAA
Amino sequence
MACLNPVLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAELGTSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVPIMVTETSGRAGILQHPIQQVFQQLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQPAILPSGPVDRKHLENATSDILVSPGNEHKIVPEALLCHQESSHYISLPGVVFSPQVSQTNSNVESVLSGSASMAQNLHDESLSTSPHGALHQHVTDIQLHILKNRMYGCDSVKQPRNIEEPSNIPVSEKDSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADENEFLGNIDGGDLKVPEEEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGDDVSEQDVPDLFDTDNVIVCQYDKIHRSKNKWKFYLKDGVMCFGGRDYVFAKAIGDAEW*