Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
---|---|---|---|---|---|---|---|
ENST00000583800 | SMCHD1-210 | 865 | - | ENSP00000463036 | 48 (aa) | - | J3KTK7 |
ENST00000581711 | SMCHD1-207 | 546 | - | - | - (aa) | - | - |
ENST00000581631 | SMCHD1-206 | 729 | - | - | - (aa) | - | - |
ENST00000609587 | SMCHD1-213 | 460 | - | - | - (aa) | - | - |
ENST00000577880 | SMCHD1-203 | 4951 | - | ENSP00000463049 | 1388 (aa) | - | J3KTL8 |
ENST00000645355 | SMCHD1-215 | 2315 | - | ENSP00000495392 | 212 (aa) | - | A0A2R8YE92 |
ENST00000584897 | SMCHD1-211 | 4143 | - | ENSP00000464684 | 150 (aa) | - | J3QSH1 |
ENST00000577300 | SMCHD1-202 | 506 | - | - | - (aa) | - | - |
ENST00000585229 | SMCHD1-212 | 555 | - | ENSP00000462050 | 49 (aa) | - | J3KRK8 |
ENST00000320876 | SMCHD1-201 | 8821 | XM_011525642 | ENSP00000326603 | 2005 (aa) | XP_011523944 | A6NHR9 |
ENST00000642953 | SMCHD1-214 | 1263 | - | ENSP00000493989 | 308 (aa) | - | A0A2R8YCU7 |
ENST00000581226 | SMCHD1-204 | 459 | - | - | - (aa) | - | - |
ENST00000583441 | SMCHD1-209 | 657 | - | - | - (aa) | - | - |
ENST00000583344 | SMCHD1-208 | 738 | - | - | - (aa) | - | - |
ENST00000581383 | SMCHD1-205 | 806 | - | - | - (aa) | - | - |
ensgID | Trait | pValue | Pubmed ID |
---|---|---|---|
ENSG00000101596 | Body Mass Index | 5.69753154810362E-5 | 17903300 |
ENSG00000101596 | Body Mass Index | 4.060674613382E-5 | 17903300 |
ENSG00000101596 | Body Mass Index | 1.5532367385506E-5 | 17903300 |
ENSG00000101596 | Iron | 8.7370000E-004 | 19880490 |
ENSG00000101596 | Conotruncal cardiac defects | 4E-6 | 24800985 |
ENSG00000101596 | Prostatic Neoplasms | 4E-6 | 27515689 |
ENSG00000101596 | Electromagnetic Radiation | 4E-6 | 27515689 |
ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
---|---|---|---|---|---|---|---|---|---|
ENSG00000101596 | rs201024040 | 18 | 2710383 | AT | Nicotine withdrawal symptom count | 29532581 | [0.69-1.59] unit increase | 1.14 | EFO_0009263 |
ENSG00000101596 | rs11872184 | 18 | 2739735 | ? | Conotruncal heart defects | 24800985 | [2.15-7.74] | 4.08 | Orphanet_2445 |
ENSG00000101596 | rs685958 | 18 | 2735461 | A | Highest math class taken (MTAG) | 30038396 | [0.0058-0.0124] unit increase | 0.0091 | EFO_0004875 |
Ensembl ID | Gene Symbol | Coverage | Identiy | Ortholog | Gene Symbol | Coverage | Identiy | Species |
---|---|---|---|---|---|---|---|---|
ENSG00000101596 | SMCHD1 | 96 | 97.872 | ENSMUSG00000024054 | Smchd1 | 99 | 87.066 | Mus_musculus |
Go ID | Go_term | PubmedID | Evidence | Category |
---|---|---|---|---|
GO:0000784 | nuclear chromosome, telomeric region | 24270157. | IDA | Component |
GO:0001740 | Barr body | 23542155. | IDA | Component |
GO:0003677 | DNA binding | - | IEA | Function |
GO:0005515 | protein binding | 23542155. | IPI | Function |
GO:0005524 | ATP binding | - | IEA | Function |
GO:0006302 | double-strand break repair | - | IEA | Process |
GO:0009048 | dosage compensation by inactivation of X chromosome | 23542155. | IDA | Process |
GO:0016887 | ATPase activity | - | ISS | Function |
GO:0035861 | site of double-strand break | 24790221.25294876. | IDA | Component |
GO:0042803 | protein homodimerization activity | - | ISS | Function |
GO:0043584 | nose development | 28067909.28067911. | IMP | Process |
GO:0045739 | positive regulation of DNA repair | 24790221. | IMP | Process |
GO:0060820 | inactivation of X chromosome by heterochromatin assembly | - | ISS | Process |
GO:0060821 | inactivation of X chromosome by DNA methylation | - | IEA | Process |
GO:0070868 | heterochromatin organization involved in chromatin silencing | - | ISS | Process |
GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 25294876. | IMP | Process |
GO:2001034 | positive regulation of double-strand break repair via nonhomologous end joining | 25294876. | IMP | Process |