Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly | | IAGP | | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly | | IAGP | | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:14667819 | PMID:15489334 | PMID:16189514 | PMID:16341674 | PMID:20538592 | PMID:21056967 | PMID:21873635 | PMID:23142642 | PMID:23864651 | PMID:25416956 | PMID:28514442 |
PMID:31266804 | PMID:31318583 | PMID:31515488 | PMID:32296183 | PMID:32694168 | PMID:32694731 | PMID:32820719 | PMID:33961781 | PMID:34186245 | PMID:34638576 | PMID:35271311 | PMID:35337019 |
PMID:36044892 | PMID:36261522 | PMID:37305689 | PMID:37668766 |
TMEM147 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem147 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem147 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem147 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM147 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM147 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem147 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM147 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM147 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem147 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in TMEM147
23 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 | copy number loss | See cases [RCV000135879] | Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 | copy number loss | See cases [RCV000136794] | Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
NM_032635.4(TMEM147):c.6C>T (p.Thr2=) | single nucleotide variant | not provided [RCV003312439] | Chr19:35545745 [GRCh38] Chr19:36036647 [GRCh37] Chr19:19q13.12 |
likely benign |
GRCh37/hg19 19q13.12(chr19:35658728-36173537)x3 | copy number gain | not provided [RCV000752672] | Chr19:35658728..36173537 [GRCh37] Chr19:19q13.12 |
benign |
GRCh37/hg19 19q13.12(chr19:35723176-36183886)x3 | copy number gain | See cases [RCV000448697] | Chr19:35723176..36183886 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 | copy number gain | See cases [RCV000448231] | Chr19:30735448..36120396 [GRCh37] Chr19:19q12-13.12 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_032635.4(TMEM147):c.7C>T (p.Leu3=) | single nucleotide variant | not provided [RCV003312440] | Chr19:35545746 [GRCh38] Chr19:36036648 [GRCh37] Chr19:19q13.12 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
Single allele | deletion | Dystonic disorder [RCV001003865] | Chr19:35553425..36264299 [GRCh37] Chr19:19q13.12 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) | copy number loss | not provided [RCV000767769] | Chr19:35043556..36316644 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) | copy number loss | Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] | Chr19:35111811..37744992 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1 | copy number loss | not provided [RCV000845987] | Chr19:35613953..36183886 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_33167170)_(36643309_?)dup | duplication | Hereditary spastic paraplegia 75 [RCV003107659] | Chr19:33167170..36643309 [GRCh37] Chr19:19q13.11-13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.601C>T (p.Arg201Ter) | single nucleotide variant | TMEM147-related condition [RCV003420658]|not provided [RCV003327959] | Chr19:35547373 [GRCh38] Chr19:36038275 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 | copy number gain | not provided [RCV001833065] | Chr19:36019064..36516110 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 | copy number gain | Specific learning disability [RCV001801194] | Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2 |
pathogenic |
NC_000019.9:g.(?_35521725)_(36643309_?)del | deletion | Brugada syndrome 5 [RCV001910265] | Chr19:35521725..36643309 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_35521725)_(36054531_?)dup | duplication | Brugada syndrome 5 [RCV001906345] | Chr19:35521725..36054531 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_35521725)_(36229458_?)del | deletion | not provided [RCV001975081] | Chr19:35521725..36229458 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002292388] | Chr19:35546998 [GRCh38] Chr19:36037900 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.100_118del (p.Lys34fs) | deletion | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294531] | Chr19:35545909..35545927 [GRCh38] Chr19:36036811..36036829 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.419dup (p.Asn140fs) | duplication | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294532] | Chr19:35547017..35547018 [GRCh38] Chr19:36037919..36037920 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.390G>A (p.Trp130Ter) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294535] | Chr19:35546990 [GRCh38] Chr19:36037892 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.540_543dup (p.Val182fs) | duplication | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294536] | Chr19:35547228..35547229 [GRCh38] Chr19:36038130..36038131 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.163_172del (p.Thr55fs) | deletion | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294577] | Chr19:35546540..35546549 [GRCh38] Chr19:36037442..36037451 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.344+5G>A | single nucleotide variant | Motor delay [RCV002287184]|Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002292389] | Chr19:35546813 [GRCh38] Chr19:36037715 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.169_172del (p.Phe57fs) | microsatellite | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002292411] | Chr19:35546542..35546545 [GRCh38] Chr19:36037444..36037447 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002292412]|not provided [RCV003546757] | Chr19:35545758 [GRCh38] Chr19:36036660 [GRCh37] Chr19:19q13.12 |
pathogenic|likely pathogenic |
NM_032635.4(TMEM147):c.496C>T (p.Arg166Trp) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002292390] | Chr19:35547185 [GRCh38] Chr19:36038087 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.63C>G (p.Tyr21Ter) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294533] | Chr19:35545802 [GRCh38] Chr19:36036704 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.345-1G>T | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294534] | Chr19:35546944 [GRCh38] Chr19:36037846 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.486C>G (p.Tyr162Ter) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV002294537] | Chr19:35547175 [GRCh38] Chr19:36038077 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_032635.4(TMEM147):c.658G>A (p.Val220Ile) | single nucleotide variant | Inborn genetic diseases [RCV002682625] | Chr19:35547430 [GRCh38] Chr19:36038332 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.598G>A (p.Ala200Thr) | single nucleotide variant | Inborn genetic diseases [RCV002821970] | Chr19:35547370 [GRCh38] Chr19:36038272 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.203T>C (p.Ile68Thr) | single nucleotide variant | Inborn genetic diseases [RCV002644853] | Chr19:35546581 [GRCh38] Chr19:36037483 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.419A>G (p.Asn140Ser) | single nucleotide variant | Inborn genetic diseases [RCV002878294] | Chr19:35547019 [GRCh38] Chr19:36037921 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.370C>T (p.Arg124Trp) | single nucleotide variant | Inborn genetic diseases [RCV002718339] | Chr19:35546970 [GRCh38] Chr19:36037872 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.652G>A (p.Ala218Thr) | single nucleotide variant | Inborn genetic diseases [RCV002703057] | Chr19:35547424 [GRCh38] Chr19:36038326 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.137A>C (p.Gln46Pro) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV003326314] | Chr19:35545947 [GRCh38] Chr19:36036849 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro) | single nucleotide variant | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly [RCV003326313] | Chr19:35545770 [GRCh38] Chr19:36036672 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_032635.4(TMEM147):c.632G>A (p.Ser211Asn) | single nucleotide variant | Inborn genetic diseases [RCV003345109] | Chr19:35547404 [GRCh38] Chr19:36038306 [GRCh37] Chr19:19q13.12 |
uncertain significance |
Single allele | deletion | not provided [RCV003448708] | Chr19:35225414..37357598 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
NM_032635.4(TMEM147):c.14A>C (p.His5Pro) | single nucleotide variant | not provided [RCV003681261] | Chr19:35545753 [GRCh38] Chr19:36036655 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 | copy number gain | not specified [RCV003986115] | Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2 |
pathogenic |
NM_032635.4(TMEM147):c.344+10G>A | single nucleotide variant | TMEM147-related condition [RCV003961610] | Chr19:35546818 [GRCh38] Chr19:36037720 [GRCh37] Chr19:19q13.12 |
benign |
NM_032635.4(TMEM147):c.552-5T>C | single nucleotide variant | TMEM147-related condition [RCV003979794] | Chr19:35547319 [GRCh38] Chr19:36038221 [GRCh37] Chr19:19q13.12 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH79664 |
|
|||||||||||||||||||||||||||||||||||||||||||||
RH45737 |
|
|||||||||||||||||||||||||||||||||||||||||||||
WI-16652 |
|
|||||||||||||||||||||||||||||||||||||||||||||
D19S678E |
|
|||||||||||||||||||||||||||||||||||||||||||||
MARC_5519-5520:996690497:1 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 10 | |||||||||||||||||
Medium | 2439 | 2920 | 1716 | 615 | 1902 | 456 | 4355 | 2169 | 3732 | 418 | 1449 | 1612 | 175 | 1 | 1204 | 2788 | 6 | 2 |
Low | 71 | 10 | 9 | 49 | 9 | 1 | 28 | 2 | 1 | 1 | 1 | |||||||
Below cutoff | 1 |
RefSeq Transcripts | NM_001242597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001242598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC002389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AW130399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW473288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG697070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM423809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM765457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y18007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000222284 ⟹ ENSP00000222284 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000392204 ⟹ ENSP00000376040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000392205 ⟹ ENSP00000376041 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000477168 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000593027 ⟹ ENSP00000466262 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000595180 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000595467 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000596232 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000599895 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001242597 ⟹ NP_001229526 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001242598 ⟹ NP_001229527 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_032635 ⟹ NP_116024 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001229526 | (Get FASTA) | NCBI Sequence Viewer |
NP_001229527 | (Get FASTA) | NCBI Sequence Viewer | |
NP_116024 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH01118 | (Get FASTA) | NCBI Sequence Viewer |
CAA77013 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000222284 | ||
ENSP00000222284.4 | |||
ENSP00000376040 | |||
ENSP00000376040.1 | |||
ENSP00000376041.1 | |||
ENSP00000466262.1 | |||
GenBank Protein | Q9BVK8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_116024 ⟸ NM_032635 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A8MWW0 (UniProtKB/Swiss-Prot), O75790 (UniProtKB/Swiss-Prot), Q9BVK8 (UniProtKB/Swiss-Prot), A8MU21 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001229526 ⟸ NM_001242597 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9BVK8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001229527 ⟸ NM_001242598 |
- Peptide Label: | isoform 3 |
- Sequence: |
RefSeq Acc Id: | ENSP00000376041 ⟸ ENST00000392205 |
RefSeq Acc Id: | ENSP00000376040 ⟸ ENST00000392204 |
RefSeq Acc Id: | ENSP00000222284 ⟸ ENST00000222284 |
RefSeq Acc Id: | ENSP00000466262 ⟸ ENST00000593027 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BVK8-F1-model_v2 | AlphaFold | Q9BVK8 | 1-224 | view protein structure |
RGD ID: | 7239541 | ||||||||
Promoter ID: | EPDNEW_H25516 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM147_1 | ||||||||
Description: | transmembrane protein 147 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6796113 | ||||||||
Promoter ID: | HG_KWN:29660 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_2Hour, Jurkat | ||||||||
Transcripts: | ENST00000222284, ENST00000392205, UC002OAI.1, UC002OAK.1, UC010EED.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:30414 | AgrOrtholog |
COSMIC | TMEM147 | COSMIC |
Ensembl Genes | ENSG00000105677 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000222284 | ENTREZGENE |
ENST00000222284.10 | UniProtKB/Swiss-Prot | |
ENST00000392204 | ENTREZGENE | |
ENST00000392204.6 | UniProtKB/Swiss-Prot | |
ENST00000392205.2 | UniProtKB/TrEMBL | |
ENST00000593027.6 | UniProtKB/TrEMBL | |
GTEx | ENSG00000105677 | GTEx |
HGNC ID | HGNC:30414 | ENTREZGENE |
Human Proteome Map | TMEM147 | Human Proteome Map |
InterPro | TMEM147 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:10430 | UniProtKB/Swiss-Prot |
NCBI Gene | 10430 | ENTREZGENE |
OMIM | 613585 | OMIM |
PANTHER | PTHR12869 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRANSMEMBRANE PROTEIN 147 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF2053 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA144596255 | PharmGKB |
UniProt | A8MU21 | ENTREZGENE, UniProtKB/TrEMBL |
A8MWW0 | ENTREZGENE | |
K7ELX3_HUMAN | UniProtKB/TrEMBL | |
O75790 | ENTREZGENE | |
Q9BVK8 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A8MWW0 | UniProtKB/Swiss-Prot |
O75790 | UniProtKB/Swiss-Prot |