ENST00000682253.1 MAMLD1
Information
- Transcript ID
- ENST00000682253.1
- Genome
- hg19
- Position
- chrX:149,530,585-149,682,420
- Strand
- +
- CDS length
- 2,325
- Amino acid length
- 775
- Gene symbol
- MAMLD1
- Gene type
- protein-coding
- Gene description
- mastermind like domain containing 1
- Gene Entrez Gene ID
- 10046
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| 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 | 149,530,585 | 149,531,153 |
| 2 | 149,613,720 | 149,613,878 |
| 3 | 149,631,038 | 149,631,112 |
| 4 | 149,638,017 | 149,639,762 |
| 5 | 149,641,952 | 149,642,074 |
| 6 | 149,671,544 | 149,671,787 |
| 7 | 149,678,232 | 149,678,316 |
| 8 | 149,680,274 | 149,682,420 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 149,613,783 | 149,613,878 |
| 3 | CDS | 149,631,038 | 149,631,112 |
| 4 | CDS | 149,638,017 | 149,639,762 |
| 5 | CDS | 149,641,952 | 149,642,074 |
| 6 | CDS | 149,671,544 | 149,671,787 |
| 7 | CDS | 149,678,232 | 149,678,272 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chrX | 150,362,318 | 150,514,150 | Link |
CDS sequence
ATGGATGACTGGAAAAGTCGGCTTGTAATCAAGAGCATGCTTCCCCATTTCGCCATGGTGGGAAATCGTCAGGAGCCCAGAAAGCTCCAGGAATCGGGAAAGAAGCCCTCGTGGATGGAGGAAGAAGATTTATCTTTTCTCTACAAGAGCAGCCCAGGAAGAAAGCATCAGGGAACTGTTAAGAGGAGACAAGAAGAAGACCACTTCCAGTTTCCAGACATGGCTGATGGGGGCTACCCTAATAAAATTAAGAGGCCTTGCCTTGAAGATGTCACCCTTGCAATGGGCCCAGGTGCTCATCCTAGTACTGCTTGTGCAGAACTGCAGGTCCCTCCATTGACAATAAATCCTAGCCCTGCGGCTATGGGAGTGGCTGGCCAGTCATTACTGCTGGAGAATAACCCTATGAATGGCAACATCATGGGCTCACCATTTGTAGTACCACAGACTACAGAAGTGGGACTGAAAGGGCCCACTGTTCCTTACTATGAGAAAATCAACAGCGTGCCGGCTGTAGACCAGGAGCTTCAAGAGCTGCTAGAGGAGCTCACCAAAATTCAAGACCCTTCTCCAAATGAGCTAGATCTTGAGAAGATACTGGGGACGAAGCCAGAAGAGCCACTGGTTTTAGATCATCCCCAGGCAACCCTAAGCACAACTCCCAAGCCTTCGGTTCAGATGTCACACTTGGAGAGCCTGGCTTCCAGCAAGGAGTTTGCTTCTAGTTGCAGCCAAGTTACTGGCATGTCACTTCAGATCCCATCCTCCTCCACAGGGATCAGCTATTCGATTCCTTCCACCAGTAAGCAGATAGTGTCACCGAGTTCTTCAATGGCACAGTCCAAGAGCCAGGTCCAGGCCATGCTCCCTGTCGCTCTGCCCCCCTTACCAGTGCCTCAGTGGCATCACGCCCACCAGCTGAAGGCGTTGGCAGCCAGCAAGCAGGGGTCTGCTACAAAGCAGCAAGGGCCCACCCCCAGTTGGTCTGGTCTGCCTCCTCCAGGACTCTCTCCACCTTACCGCCCAGTGCCATCACCACACCCACCACCGCTGCCACTGCCACCACCACCACCCCCATTCAGCCCCCAGAGCCTCATGGTGTCCTGCATGTCGTCCAATACCTTGTCGGGTAGCACTCTCCGAGGCTCTCCCAATGCCTTACTGTCAAGCATGACGTCCAGCAGCAATGCTGCCCTGGGGCCCGCCATGCCCTATGCTCCTGAGAAGCTCCCCAGCCCTGCTCTCACTCAACAGCCGCAGTTCGGCCCTCAGAGCTCCATTCTTGCCAACCTCATGTCCTCTACCATCAAAACCCCTCAAGGACACCTGATGTCTGCTCTGCCTGCCAGCAACCCTGGGCCGTCCCCACCCTATCGCCCAGAGAAGCTCTCTAGCCCAGGCTTGCCACAGCAGTCCTTCACCCCACAGTGTTCCCTGATCCGAAGCCTCACTCCCACCAGTAATCTTCTAAGCCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAAGCAAATGTGATCTTTAAGCCCATAAGCAGCAACTCATCCAAAACCCTGAGCATGATCATGCAGCAGGGGATGGCAAGCTCCAGCCCAGGAGCCACGGAGCCATTTACTTTTGGCAACACCAAGCCCTTGTCCCATTTTGTTTCTGAGCCGGGTCCCCAGAAGATGCCCTCCATGCCTACCACCTCTAGGCAGCCTTCCCTGCTCCACTACCTGCAGCAGCCGACACCAACGCAGGCCTCCTCAGCCACTGCCTCCTCCACGGCCACTGCCACCTTGCAGCTGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCCTGACCATTCTTCATTCCTTCTGCAGCAGATGATGCAGCAACCCCAGCGTTTTCAGCGATCAGTGGCCTCAGATTCCATGCCTGCTCTGCCCAGACAGGGCTGTTGCCATCTGTTTGCATGGACTTCTGCAGCTAGCTCGGTGAAGCCCCAGCATCAACACGGGAACTCTTTCACTAGCAGGCAAGATCCTCAGCCTGGAGACGTGTCACCGTCTAACATTACTCATGTAGACAAAGCCTGCAAGCTTGGGGAAGCCAGGCACCCCCAGGTCAGCCTCGGGCGACAGCCCCCGTCCTGCCAGGCCCTGGGGAGTGAGTCCTTCCTGCCCGGCAGCTCCTTTGCTCATGAGCTGGCCCGAGTCACCTCCTCGTACAGCACCTCAGAGGCAGCGCCCTGGGGCAGCTGGGATCCGAAGGCCTGGAGGCAGGTGCCCGCTCCACTACTGCCTAGCTGCGACGCCACAGCAAGAGGAACAGAGATCAGGTCTTATGGCAATGACCCCTGA
Amino sequence
MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGKKPSWMEEEDLSFLYKSSPGRKHQGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVAGQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSVQMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPTPSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQSSILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGMASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQRSVASDSMPALPRQGCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP*