Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MSMO1 | Human | Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MSMO1 | Human | Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8663358 | PMID:8889548 | PMID:12477932 | PMID:15489334 | PMID:16713569 | PMID:18660489 | PMID:19322201 | PMID:21103663 | PMID:21285510 | PMID:21873635 | PMID:22791750 | PMID:22939629 |
PMID:24144731 | PMID:26186194 | PMID:28298427 | PMID:28380382 | PMID:28514442 | PMID:29180619 | PMID:30021884 | PMID:30463901 | PMID:31091453 | PMID:32296183 | PMID:32393512 | PMID:32694731 |
PMID:33161406 | PMID:33845483 | PMID:33961781 | PMID:34186245 | PMID:34732716 | PMID:35235311 | PMID:35271311 | PMID:35696571 | PMID:36215168 | PMID:36216146 | PMID:36736316 | PMID:36958722 |
PMID:37071682 | PMID:37499664 | PMID:38569033 |
MSMO1 (Homo sapiens - human) |
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Msmo1 (Mus musculus - house mouse) |
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Msmo1 (Rattus norvegicus - Norway rat) |
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Msmo1 (Chinchilla lanigera - long-tailed chinchilla) |
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MSMO1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MSMO1 (Canis lupus familiaris - dog) |
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Msmo1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MSMO1 (Sus scrofa - pig) |
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MSMO1 (Chlorocebus sabaeus - green monkey) |
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Msmo1 (Heterocephalus glaber - naked mole-rat) |
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Variants in MSMO1
64 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 | copy number gain | See cases [RCV000050649] | Chr4:162013220..189975519 [GRCh38] Chr4:162934372..190828225 [GRCh37] Chr4:163153822..191133668 [NCBI36] Chr4:4q32.2-35.2 |
pathogenic |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 | copy number gain | See cases [RCV000051785] | Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 | copy number gain | See cases [RCV000051786] | Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 | copy number gain | See cases [RCV000051788] | Chr4:147317283..173675559 [GRCh38] Chr4:148238435..174596710 [GRCh37] Chr4:148457885..174833285 [NCBI36] Chr4:4q31.22-34.1 |
pathogenic |
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] | Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2 |
pathogenic |
GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3 | copy number gain | See cases [RCV000051791] | Chr4:161592038..165721577 [GRCh38] Chr4:162513190..166642729 [GRCh37] Chr4:162732640..166862179 [NCBI36] Chr4:4q32.2-32.3 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] | Chr4:158568335..189975660 [GRCh38] Chr4:159489487..190828225 [GRCh37] Chr4:159708937..191133809 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 | copy number loss | See cases [RCV000053326] | Chr4:162723818..172501433 [GRCh38] Chr4:163644970..173422584 [GRCh37] Chr4:163864420..173659159 [NCBI36] Chr4:4q32.2-34.1 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] | Chr4:163651681..189975519 [GRCh38] Chr4:164572833..190828225 [GRCh37] Chr4:164792283..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 | copy number loss | See cases [RCV000053347] | Chr4:164039530..189982708 [GRCh38] Chr4:164960682..190828225 [GRCh37] Chr4:165180132..191140857 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 | copy number gain | See cases [RCV000135845] | Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3 | copy number gain | See cases [RCV000136603] | Chr4:158387928..166845726 [GRCh38] Chr4:159309080..167766877 [GRCh37] Chr4:159528530..168003452 [NCBI36] Chr4:4q32.1-32.3 |
pathogenic|uncertain significance |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 | copy number gain | See cases [RCV000136810] | Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 | copy number gain | See cases [RCV000137721] | Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 | copy number gain | See cases [RCV000138578] | Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 | copy number loss | See cases [RCV000140414] | Chr4:165281036..190018185 [GRCh38] Chr4:166202188..190939340 [GRCh37] Chr4:166421638..191176334 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 | copy number gain | See cases [RCV000140982] | Chr4:160757699..190091407 [GRCh38] Chr4:161678851..191012562 [GRCh37] Chr4:161898301..191246543 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 | copy number loss | See cases [RCV000141861] | Chr4:155162982..170959553 [GRCh38] Chr4:156084134..171880704 [GRCh37] Chr4:156303584..172117279 [NCBI36] Chr4:4q32.1-33 |
pathogenic |
GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1 | copy number loss | See cases [RCV000142339] | Chr4:164837643..167576305 [GRCh38] Chr4:165758795..168497456 [GRCh37] Chr4:165978245..168734031 [NCBI36] Chr4:4q32.3 |
uncertain significance |
GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3 | copy number gain | See cases [RCV000143095] | Chr4:161590861..165734658 [GRCh38] Chr4:162512013..166655810 [GRCh37] Chr4:162731463..166875260 [NCBI36] Chr4:4q32.2-32.3 |
uncertain significance |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 | copy number gain | See cases [RCV000143559] | Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 | copy number gain | See cases [RCV000240245] | Chr4:136912336..184253252 [GRCh37] Chr4:4q28.3-35.1 |
pathogenic |
NM_006745.5(MSMO1):c.736G>C (p.Gly246Arg) | single nucleotide variant | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome [RCV000208578] | Chr4:165341800 [GRCh38] Chr4:166262952 [GRCh37] Chr4:4q32.3 |
pathogenic |
NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys) | single nucleotide variant | Inborn genetic diseases [RCV000622619]|Microcephaly-congenital cataract-psoriasiform dermatitis syndrome [RCV000208576] | Chr4:165341795 [GRCh38] Chr4:166262947 [GRCh37] Chr4:4q32.3 |
pathogenic|likely pathogenic |
NM_006745.5(MSMO1):c.519T>A (p.His173Gln) | single nucleotide variant | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome [RCV000208581] | Chr4:165338766 [GRCh38] Chr4:166259918 [GRCh37] Chr4:4q32.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 | copy number loss | See cases [RCV000239855] | Chr4:162344510..177103037 [GRCh37] Chr4:4q32.2-34.2 |
pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 | copy number gain | See cases [RCV000240392] | Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 | copy number gain | See cases [RCV000510713] | Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 | copy number gain | See cases [RCV000511945] | Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
NM_006745.5(MSMO1):c.144G>T (p.Gln48His) | single nucleotide variant | not specified [RCV004299773] | Chr4:165333514 [GRCh38] Chr4:166254666 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 | copy number gain | See cases [RCV000512542] | Chr4:156465633..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 | copy number loss | See cases [RCV000512340] | Chr4:162205710..182329883 [GRCh37] Chr4:4q32.2-34.3 |
pathogenic |
NM_006745.5(MSMO1):c.536C>T (p.Pro179Leu) | single nucleotide variant | Inborn genetic diseases [RCV000624749] | Chr4:165340225 [GRCh38] Chr4:166261377 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 | copy number gain | not provided [RCV000682475] | Chr4:157552397..183831253 [GRCh37] Chr4:4q32.1-35.1 |
pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 | copy number gain | not provided [RCV000682478] | Chr4:159492464..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
Single allele | deletion | not provided [RCV000677975] | Chr4:164428194..173480785 [GRCh37] Chr4:4q32.2-34.1 |
likely pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_006745.5(MSMO1):c.831G>A (p.Gln277=) | single nucleotide variant | MSMO1-related disorder [RCV003984001]|not provided [RCV001609517] | Chr4:165341895 [GRCh38] Chr4:166263047 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.532-129T>C | single nucleotide variant | not provided [RCV001667626] | Chr4:165340092 [GRCh38] Chr4:166261244 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.284G>C (p.Trp95Ser) | single nucleotide variant | not specified [RCV004291940] | Chr4:165337817 [GRCh38] Chr4:166258969 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.303T>C (p.Leu101=) | single nucleotide variant | not provided [RCV000902647] | Chr4:165337836 [GRCh38] Chr4:166258988 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.371A>G (p.Asn124Ser) | single nucleotide variant | not provided [RCV000964976] | Chr4:165337904 [GRCh38] Chr4:166259056 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.610G>A (p.Val204Met) | single nucleotide variant | MSMO1-related disorder [RCV003932910]|not provided [RCV000906210] | Chr4:165340299 [GRCh38] Chr4:166261451 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 | copy number gain | not provided [RCV000846267] | Chr4:165069355..177189728 [GRCh37] Chr4:4q32.3-34.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 | copy number gain | not provided [RCV000849098] | Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 | copy number gain | not provided [RCV000849686] | Chr4:124873497..185278662 [GRCh37] Chr4:4q28.1-35.1 |
pathogenic |
NM_006745.5(MSMO1):c.405-161C>T | single nucleotide variant | not provided [RCV001637355] | Chr4:165338491 [GRCh38] Chr4:166259643 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.687-208_687-207insA | insertion | not provided [RCV001657509] | Chr4:165341543..165341544 [GRCh38] Chr4:166262695..166262696 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.405-297T>C | single nucleotide variant | not provided [RCV001650173] | Chr4:165338355 [GRCh38] Chr4:166259507 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.686+82G>T | single nucleotide variant | not provided [RCV001685229] | Chr4:165340457 [GRCh38] Chr4:166261609 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.255+196A>G | single nucleotide variant | not provided [RCV001677645] | Chr4:165333821 [GRCh38] Chr4:166254973 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.376C>G (p.Pro126Ala) | single nucleotide variant | MSMO1-related disorder [RCV003912898]|not provided [RCV000903119] | Chr4:165337909 [GRCh38] Chr4:166259061 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.296A>G (p.Lys99Arg) | single nucleotide variant | not provided [RCV000918379] | Chr4:165337829 [GRCh38] Chr4:166258981 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_006745.5(MSMO1):c.256-36G>A | single nucleotide variant | not provided [RCV001658482] | Chr4:165337753 [GRCh38] Chr4:166258905 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.405-85T>G | single nucleotide variant | not provided [RCV001717913] | Chr4:165338567 [GRCh38] Chr4:166259719 [GRCh37] Chr4:4q32.3 |
benign |
GRCh37/hg19 4q32.1-32.3(chr4:161461677-166911259)x1 | copy number loss | not provided [RCV002473507] | Chr4:161461677..166911259 [GRCh37] Chr4:4q32.1-32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.687-39G>A | single nucleotide variant | not provided [RCV001638996] | Chr4:165341712 [GRCh38] Chr4:166262864 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.687-162C>A | single nucleotide variant | not provided [RCV001688512] | Chr4:165341589 [GRCh38] Chr4:166262741 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.-31-318C>G | single nucleotide variant | not provided [RCV001643448] | Chr4:165333022 [GRCh38] Chr4:166254174 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.-31-139C>G | single nucleotide variant | not provided [RCV001686049] | Chr4:165333201 [GRCh38] Chr4:166254353 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.255+176A>C | single nucleotide variant | not provided [RCV001695020] | Chr4:165333801 [GRCh38] Chr4:166254953 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.*242A>G | single nucleotide variant | not provided [RCV001695426] | Chr4:165342188 [GRCh38] Chr4:166263340 [GRCh37] Chr4:4q32.3 |
benign |
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 | copy number loss | not provided [RCV001005612] | Chr4:165010461..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_006745.5(MSMO1):c.686+273T>C | single nucleotide variant | not provided [RCV001724668] | Chr4:165340648 [GRCh38] Chr4:166261800 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.686+62A>G | single nucleotide variant | not provided [RCV001684963] | Chr4:165340437 [GRCh38] Chr4:166261589 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.405-323T>C | single nucleotide variant | not provided [RCV001681463] | Chr4:165338329 [GRCh38] Chr4:166259481 [GRCh37] Chr4:4q32.3 |
benign |
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 | copy number gain | not provided [RCV001537926] | Chr4:131303317..168722402 [GRCh37] Chr4:4q28.3-32.3 |
pathogenic |
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) | copy number loss | Autism with high cognitive abilities [RCV001352663] | Chr4:157771352..172496278 [GRCh37] Chr4:4q32.1-34.1 |
pathogenic |
NM_006745.5(MSMO1):c.404+72C>T | single nucleotide variant | not provided [RCV001724664] | Chr4:165338009 [GRCh38] Chr4:166259161 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.*115A>G | single nucleotide variant | not provided [RCV001616352] | Chr4:165342061 [GRCh38] Chr4:166263213 [GRCh37] Chr4:4q32.3 |
benign |
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) | copy number gain | not specified [RCV002053465] | Chr4:159755174..190225765 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
NM_006745.5(MSMO1):c.411T>A (p.Phe137Leu) | single nucleotide variant | not provided [RCV001964593]|not specified [RCV004651838] | Chr4:165338658 [GRCh38] Chr4:166259810 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.818G>A (p.Gly273Glu) | single nucleotide variant | not provided [RCV001932978] | Chr4:165341882 [GRCh38] Chr4:166263034 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.443T>C (p.Ile148Thr) | single nucleotide variant | not provided [RCV001885016] | Chr4:165338690 [GRCh38] Chr4:166259842 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.608_609delinsCT (p.Ile203Thr) | indel | not provided [RCV001938073] | Chr4:165340297..165340298 [GRCh38] Chr4:166261449..166261450 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.405-9A>G | single nucleotide variant | not provided [RCV002147480] | Chr4:165338643 [GRCh38] Chr4:166259795 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.532-16T>C | single nucleotide variant | not provided [RCV002203119] | Chr4:165340205 [GRCh38] Chr4:166261357 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.405-10dup | duplication | not provided [RCV002176921] | Chr4:165338637..165338638 [GRCh38] Chr4:166259789..166259790 [GRCh37] Chr4:4q32.3 |
benign |
NM_006745.5(MSMO1):c.372T>C (p.Asn124=) | single nucleotide variant | not provided [RCV002203510] | Chr4:165337905 [GRCh38] Chr4:166259057 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 | copy number loss | See cases [RCV002292401] | Chr4:159174483..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
NM_006745.5(MSMO1):c.707A>G (p.Asn236Ser) | single nucleotide variant | not provided [RCV002994214]|not specified [RCV004654075] | Chr4:165341771 [GRCh38] Chr4:166262923 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.13G>C (p.Glu5Gln) | single nucleotide variant | not provided [RCV002904043] | Chr4:165333383 [GRCh38] Chr4:166254535 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.352T>C (p.Tyr118His) | single nucleotide variant | not provided [RCV002662949] | Chr4:165337885 [GRCh38] Chr4:166259037 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.179C>G (p.Ala60Gly) | single nucleotide variant | not provided [RCV002620689]|not specified [RCV004070606] | Chr4:165333549 [GRCh38] Chr4:166254701 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.156G>C (p.Trp52Cys) | single nucleotide variant | not provided [RCV002953933] | Chr4:165333526 [GRCh38] Chr4:166254678 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.256-4G>A | single nucleotide variant | not provided [RCV002572840] | Chr4:165337785 [GRCh38] Chr4:166258937 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.306C>T (p.Leu102=) | single nucleotide variant | not provided [RCV002627110] | Chr4:165337839 [GRCh38] Chr4:166258991 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.659G>A (p.Arg220His) | single nucleotide variant | not provided [RCV002596729] | Chr4:165340348 [GRCh38] Chr4:166261500 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.31A>C (p.Ser11Arg) | single nucleotide variant | not specified [RCV004237262] | Chr4:165333401 [GRCh38] Chr4:166254553 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.449A>T (p.Asp150Val) | single nucleotide variant | not provided [RCV002941921] | Chr4:165338696 [GRCh38] Chr4:166259848 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.602T>C (p.Ile201Thr) | single nucleotide variant | not specified [RCV004069472] | Chr4:165340291 [GRCh38] Chr4:166261443 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.168A>G (p.Ile56Met) | single nucleotide variant | not provided [RCV002720215] | Chr4:165333538 [GRCh38] Chr4:166254690 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.587G>C (p.Gly196Ala) | single nucleotide variant | not provided [RCV002811885] | Chr4:165340276 [GRCh38] Chr4:166261428 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.315C>A (p.His105Gln) | single nucleotide variant | not provided [RCV002966381]|not specified [RCV004068128] | Chr4:165337848 [GRCh38] Chr4:166259000 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.282A>G (p.Gln94=) | single nucleotide variant | not provided [RCV003070436] | Chr4:165337815 [GRCh38] Chr4:166258967 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.531+15T>C | single nucleotide variant | not provided [RCV002586348] | Chr4:165338793 [GRCh38] Chr4:166259945 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.532G>A (p.Ala178Thr) | single nucleotide variant | not specified [RCV004254432] | Chr4:165340221 [GRCh38] Chr4:166261373 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 | copy number gain | not provided [RCV003484198] | Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3 |
pathogenic |
NM_006745.5(MSMO1):c.195C>A (p.Phe65Leu) | single nucleotide variant | not provided [RCV003875435] | Chr4:165333565 [GRCh38] Chr4:166254717 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.687-12T>C | single nucleotide variant | not provided [RCV003713072] | Chr4:165341739 [GRCh38] Chr4:166262891 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.405-15A>G | single nucleotide variant | not provided [RCV003823324] | Chr4:165338637 [GRCh38] Chr4:166259789 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.821C>T (p.Thr274Ile) | single nucleotide variant | not provided [RCV003563774] | Chr4:165341885 [GRCh38] Chr4:166263037 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 | copy number loss | not specified [RCV003986532] | Chr4:161589441..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 | copy number gain | not specified [RCV003986533] | Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2 |
pathogenic |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 | copy number gain | not specified [RCV003986496] | Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
NM_006745.5(MSMO1):c.405-20A>G | single nucleotide variant | not provided [RCV003866664] | Chr4:165338632 [GRCh38] Chr4:166259784 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_006745.5(MSMO1):c.532-11G>C | single nucleotide variant | not provided [RCV003551773] | Chr4:165340210 [GRCh38] Chr4:166261362 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 | copy number gain | not provided [RCV003885507] | Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_006745.5(MSMO1):c.15A>T (p.Glu5Asp) | single nucleotide variant | not specified [RCV004498845] | Chr4:165333385 [GRCh38] Chr4:166254537 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.38C>T (p.Ala13Val) | single nucleotide variant | not specified [RCV004500929] | Chr4:165333408 [GRCh38] Chr4:166254560 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.458A>C (p.His153Pro) | single nucleotide variant | not specified [RCV004500935] | Chr4:165338705 [GRCh38] Chr4:166259857 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.125A>T (p.Asn42Ile) | single nucleotide variant | not specified [RCV004638415] | Chr4:165333495 [GRCh38] Chr4:166254647 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_006745.5(MSMO1):c.823G>A (p.Asp275Asn) | single nucleotide variant | not specified [RCV004638414] | Chr4:165341887 [GRCh38] Chr4:166263039 [GRCh37] Chr4:4q32.3 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
STS-D29470 |
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1362 |
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SHGC-33293 |
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A007J08 |
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G33491 |
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D8S2279 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_042288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001017369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_006745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005263176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC012504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK292418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AV704962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC107879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU676028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU940384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX441001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FB336810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HH768149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U60205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U93162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000261507 ⟹ ENSP00000261507 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000393766 ⟹ ENSP00000377361 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000504317 ⟹ ENSP00000423633 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000505270 ⟹ ENSP00000425112 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000507013 ⟹ ENSP00000425241 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001017369 ⟹ NP_001017369 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_006745 ⟹ NP_006736 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005263176 ⟹ XP_005263233 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | XM_054350704 ⟹ XP_054206679 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001017369 | (Get FASTA) | NCBI Sequence Viewer |
NP_006736 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005263233 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206679 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB81566 | (Get FASTA) | NCBI Sequence Viewer |
AAC50587 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10653 | (Get FASTA) | NCBI Sequence Viewer | |
AAI07880 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85107 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12066 | (Get FASTA) | NCBI Sequence Viewer | |
CAR81350 | (Get FASTA) | NCBI Sequence Viewer | |
CBX84826 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04820 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04821 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000261507 | ||
ENSP00000261507.6 | |||
ENSP00000377361 | |||
ENSP00000377361.2 | |||
ENSP00000423633.1 | |||
ENSP00000425112.1 | |||
ENSP00000425241.1 | |||
GenBank Protein | Q15800 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006736 ⟸ NM_006745 |
- Peptide Label: | isoform 1 |
- UniProtKB: | D3DP32 (UniProtKB/Swiss-Prot), A8MYF6 (UniProtKB/Swiss-Prot), A8K8Q3 (UniProtKB/Swiss-Prot), Q32Q24 (UniProtKB/Swiss-Prot), Q15800 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001017369 ⟸ NM_001017369 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q15800 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005263233 ⟸ XM_005263176 |
- Peptide Label: | isoform X1 |
- UniProtKB: | D3DP32 (UniProtKB/Swiss-Prot), A8MYF6 (UniProtKB/Swiss-Prot), A8K8Q3 (UniProtKB/Swiss-Prot), Q32Q24 (UniProtKB/Swiss-Prot), Q15800 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000423633 ⟸ ENST00000504317 |
Ensembl Acc Id: | ENSP00000425112 ⟸ ENST00000505270 |
Ensembl Acc Id: | ENSP00000425241 ⟸ ENST00000507013 |
Ensembl Acc Id: | ENSP00000377361 ⟸ ENST00000393766 |
Ensembl Acc Id: | ENSP00000261507 ⟸ ENST00000261507 |
RefSeq Acc Id: | XP_054206679 ⟸ XM_054350704 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q15800 (UniProtKB/Swiss-Prot), D3DP32 (UniProtKB/Swiss-Prot), A8MYF6 (UniProtKB/Swiss-Prot), A8K8Q3 (UniProtKB/Swiss-Prot), Q32Q24 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q15800-F1-model_v2 | AlphaFold | Q15800 | 1-293 | view protein structure |
RGD ID: | 6868836 | ||||||||
Promoter ID: | EPDNEW_H7583 | ||||||||
Type: | initiation region | ||||||||
Name: | MSMO1_1 | ||||||||
Description: | methylsterol monooxygenase 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6802593 | ||||||||
Promoter ID: | HG_KWN:49418 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000261507, NM_001017369, UC010IRB.1 | ||||||||
Position: |
|
RGD ID: | 6850954 | ||||||||
Promoter ID: | EP73272 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_SC4MOL | ||||||||
Description: | Sterol-C4-methyl oxidase-like. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:10545 | AgrOrtholog |
COSMIC | MSMO1 | COSMIC |
Ensembl Genes | ENSG00000052802 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000261507 | ENTREZGENE |
ENST00000261507.11 | UniProtKB/Swiss-Prot | |
ENST00000393766 | ENTREZGENE | |
ENST00000393766.6 | UniProtKB/Swiss-Prot | |
ENST00000504317.1 | UniProtKB/TrEMBL | |
ENST00000505270.1 | UniProtKB/TrEMBL | |
ENST00000507013.5 | UniProtKB/TrEMBL | |
GTEx | ENSG00000052802 | GTEx |
HGNC ID | HGNC:10545 | ENTREZGENE |
Human Proteome Map | MSMO1 | Human Proteome Map |
InterPro | Fatty_acid_hydroxylase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sterol_Desaturase_Related | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6307 | UniProtKB/Swiss-Prot |
NCBI Gene | 6307 | ENTREZGENE |
OMIM | 607545 | OMIM |
PANTHER | LATHOSTEROL OXIDASE-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
STEROL DESATURASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FA_hydroxylase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34955 | PharmGKB |
UniProt | A8K8Q3 | ENTREZGENE |
A8MYF6 | ENTREZGENE | |
D3DP32 | ENTREZGENE | |
D6R952_HUMAN | UniProtKB/TrEMBL | |
D6RDP9_HUMAN | UniProtKB/TrEMBL | |
D6REA2_HUMAN | UniProtKB/TrEMBL | |
MSMO1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q32Q24 | ENTREZGENE | |
UniProt Secondary | A8K8Q3 | UniProtKB/Swiss-Prot |
A8MYF6 | UniProtKB/Swiss-Prot | |
D3DP32 | UniProtKB/Swiss-Prot | |
Q32Q24 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-09-13 | MSMO1 | methylsterol monooxygenase 1 | SC4MOL | sterol-C4-methyl oxidase-like | Symbol and/or name change | 5135510 | APPROVED |