Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hypertelorism | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:25741868 | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hypertelorism | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:25741868 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | Rare inborn errors associated with chronic hepatitis B virus infection. | Zhao Q, etal., Hepatology. 2012 Nov;56(5):1661-70. doi: 10.1002/hep.25850. Epub 2012 Oct 14. |
PMID:10718198 | PMID:10767548 | PMID:12477932 | PMID:14702039 | PMID:16344560 | PMID:19056867 | PMID:19322201 | PMID:20379614 | PMID:20458337 | PMID:21166591 | PMID:22268729 | PMID:25468996 |
PMID:26186194 | PMID:26638075 | PMID:27253403 | PMID:27328729 | PMID:27880917 | PMID:28065597 | PMID:28246172 | PMID:28514442 | PMID:28692057 | PMID:29180619 | PMID:29395067 | PMID:29507755 |
PMID:29568061 | PMID:30024968 | PMID:30194290 | PMID:30241936 | PMID:30639242 | PMID:31056421 | PMID:31761535 | PMID:31871319 | PMID:32326855 | PMID:33251982 | PMID:33845483 | PMID:33957083 |
PMID:33961781 | PMID:34079125 | PMID:34349018 | PMID:34432599 | PMID:34597346 | PMID:34672954 | PMID:34709727 | PMID:35271311 | PMID:35525055 | PMID:35696571 | PMID:35844135 | PMID:36168628 |
PMID:36215168 | PMID:36237976 | PMID:36241903 | PMID:36395406 | PMID:37196767 | PMID:37232246 | PMID:37527776 | PMID:37774976 | PMID:38117590 | PMID:38378757 | PMID:38496616 |
CEMIP2 (Homo sapiens - human) |
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Cemip2 (Mus musculus - house mouse) |
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Cemip2 (Rattus norvegicus - Norway rat) |
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Cemip2 (Chinchilla lanigera - long-tailed chinchilla) |
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CEMIP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CEMIP2 (Canis lupus familiaris - dog) |
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Cemip2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CEMIP2 (Sus scrofa - pig) |
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CEMIP2 (Chlorocebus sabaeus - green monkey) |
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Cemip2 (Heterocephalus glaber - naked mole-rat) |
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Variants in CEMIP2
29 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001135820.1(TMEM2):c.2542C>T (p.Pro848Ser) | single nucleotide variant | Malignant melanoma [RCV000068692] | Chr9:71712121 [GRCh38] Chr9:74327037 [GRCh37] Chr9:73516857 [NCBI36] Chr9:9q21.13 |
not provided |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 | copy number loss | See cases [RCV000133632] | Chr9:68454847..76252863 [GRCh38] Chr9:71130848..78867779 [GRCh37] Chr9:70259583..78057599 [NCBI36] Chr9:9q21.11-21.13 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
GRCh38/hg38 9q21.12-21.13(chr9:70397983-71984116)x1 | copy number loss | See cases [RCV000137488] | Chr9:70397983..71984116 [GRCh38] Chr9:73012899..74599032 [GRCh37] Chr9:72202719..73788852 [NCBI36] Chr9:9q21.12-21.13 |
uncertain significance |
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 | copy number loss | See cases [RCV000137963] | Chr9:68499530..83670227 [GRCh38] Chr9:71130848..86285142 [GRCh37] Chr9:70304266..85474962 [NCBI36] Chr9:9q21.11-21.32 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 | copy number gain | See cases [RCV000143753] | Chr9:68624483..72028837 [GRCh38] Chr9:71239399..74643753 [GRCh37] Chr9:70429219..73833573 [NCBI36] Chr9:9q21.11-21.13 |
likely pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_013390.3(CEMIP2):c.491A>T (p.Asp164Val) | single nucleotide variant | not specified [RCV000218365] | Chr9:71745561 [GRCh38] Chr9:74360477 [GRCh37] Chr9:9q21.13 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter) | single nucleotide variant | Hypertelorism [RCV001250714] | Chr9:71704645 [GRCh38] Chr9:74319561 [GRCh37] Chr9:9q21.13 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | not specified [RCV003986800] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.12-21.13(chr9:73201718-75071682)x1 | copy number loss | See cases [RCV000448495] | Chr9:73201718..75071682 [GRCh37] Chr9:9q21.12-21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3956-20dup | duplication | not specified [RCV000454646] | Chr9:71685395..71685396 [GRCh38] Chr9:74300311..74300312 [GRCh37] Chr9:9q21.13 |
benign |
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 | copy number loss | See cases [RCV000511817] | Chr9:71079379..75905808 [GRCh37] Chr9:9q21.11-21.13 |
likely pathogenic |
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 | copy number gain | See cases [RCV000510725] | Chr9:68734571..83557267 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
GRCh37/hg19 9q21.12-21.13(chr9:73925485-75008609)x4 | copy number gain | See cases [RCV000511040] | Chr9:73925485..75008609 [GRCh37] Chr9:9q21.12-21.13 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
NM_013390.3(CEMIP2):c.63T>G (p.Ser21Arg) | single nucleotide variant | not specified [RCV004318105] | Chr9:71750311 [GRCh38] Chr9:74365227 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3055C>T (p.Pro1019Ser) | single nucleotide variant | not specified [RCV004303788] | Chr9:71704734 [GRCh38] Chr9:74319650 [GRCh37] Chr9:9q21.13 |
uncertain significance |
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | copy number gain | See cases [RCV000512280] | Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 | copy number loss | not provided [RCV000683169] | Chr9:68999534..84656998 [GRCh37] Chr9:9q21.11-21.32 |
pathogenic |
Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 | copy number loss | not provided [RCV000748447] | Chr9:68838523..83340723 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_013390.3(CEMIP2):c.3956-20_3956-18dup | duplication | not provided [RCV001573428]|not specified [RCV001727886] | Chr9:71685395..71685396 [GRCh38] Chr9:74300311..74300312 [GRCh37] Chr9:9q21.13 |
benign|likely benign |
NM_013390.3(CEMIP2):c.3762C>A (p.Ser1254Arg) | single nucleotide variant | not specified [RCV004319865] | Chr9:71690181 [GRCh38] Chr9:74305097 [GRCh37] Chr9:9q21.13 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 | copy number loss | not provided [RCV000846367] | Chr9:70974661..81829792 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr) | single nucleotide variant | Hypertelorism [RCV001250713] | Chr9:71734841 [GRCh38] Chr9:74349757 [GRCh37] Chr9:9q21.13 |
pathogenic |
GRCh37/hg19 9q21.13(chr9:74173350-75170163)x1 | copy number loss | not provided [RCV001258438] | Chr9:74173350..75170163 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NC_000009.11:g.12246100_101559378inv | inversion | Recurrent spontaneous abortion [RCV000999471] | Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33 |
likely pathogenic |
NM_013390.3(CEMIP2):c.3701A>G (p.Asn1234Ser) | single nucleotide variant | not specified [RCV004267169] | Chr9:71690242 [GRCh38] Chr9:74305158 [GRCh37] Chr9:9q21.13 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) | copy number gain | not specified [RCV002053823] | Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) | copy number gain | not specified [RCV002053820] | Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32 |
pathogenic |
GRCh37/hg19 9q21.12-21.13(chr9:73201718-75071682) | copy number loss | not specified [RCV002053855] | Chr9:73201718..75071682 [GRCh37] Chr9:9q21.12-21.13 |
uncertain significance |
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) | copy number gain | not specified [RCV002053853] | Chr9:71349994..122603410 [GRCh37] Chr9:9q21.11-33.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 | copy number gain | See cases [RCV002292402] | Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11 |
pathogenic |
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) | copy number loss | Distal tetrasomy 15q [RCV002280776] | Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1 |
uncertain significance |
NM_013390.3(CEMIP2):c.3445T>C (p.Cys1149Arg) | single nucleotide variant | not specified [RCV004305855] | Chr9:71698137 [GRCh38] Chr9:74313053 [GRCh37] Chr9:9q21.13 |
uncertain significance |
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 | copy number gain | not provided [RCV002475692] | Chr9:70966262..76901382 [GRCh37] Chr9:9q21.11-21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3637G>A (p.Val1213Met) | single nucleotide variant | not specified [RCV004259962] | Chr9:71694568 [GRCh38] Chr9:74309484 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2814A>C (p.Glu938Asp) | single nucleotide variant | not specified [RCV004250220] | Chr9:71709430 [GRCh38] Chr9:74324346 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2344A>C (p.Asn782His) | single nucleotide variant | not specified [RCV004251526] | Chr9:71718003 [GRCh38] Chr9:74332919 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.199C>G (p.Gln67Glu) | single nucleotide variant | not specified [RCV004287057] | Chr9:71750175 [GRCh38] Chr9:74365091 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3565A>G (p.Thr1189Ala) | single nucleotide variant | not specified [RCV004250236] | Chr9:71698017 [GRCh38] Chr9:74312933 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3533C>T (p.Pro1178Leu) | single nucleotide variant | not specified [RCV004344868] | Chr9:71698049 [GRCh38] Chr9:74312965 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3773G>A (p.Arg1258His) | single nucleotide variant | not specified [RCV004341078] | Chr9:71690170 [GRCh38] Chr9:74305086 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3814C>T (p.Arg1272Cys) | single nucleotide variant | not specified [RCV004339492] | Chr9:71690129 [GRCh38] Chr9:74305045 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2017A>G (p.Asn673Asp) | single nucleotide variant | not specified [RCV004365973] | Chr9:71729877 [GRCh38] Chr9:74344793 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2245C>G (p.Leu749Val) | single nucleotide variant | not specified [RCV004359131] | Chr9:71722449 [GRCh38] Chr9:74337365 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.663T>C (p.Phe221=) | single nucleotide variant | not provided [RCV003430102] | Chr9:71745389 [GRCh38] Chr9:74360305 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.1419T>C (p.Gly473=) | single nucleotide variant | not provided [RCV003425685] | Chr9:71732495 [GRCh38] Chr9:74347411 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.3735C>T (p.Val1245=) | single nucleotide variant | not provided [RCV003425684] | Chr9:71690208 [GRCh38] Chr9:74305124 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.3848C>T (p.Pro1283Leu) | single nucleotide variant | not specified [RCV004433605] | Chr9:71690095 [GRCh38] Chr9:74305011 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1298T>C (p.Ile433Thr) | single nucleotide variant | not specified [RCV004433558] | Chr9:71734901 [GRCh38] Chr9:74349817 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1441A>C (p.Met481Leu) | single nucleotide variant | not specified [RCV004433560] | Chr9:71732473 [GRCh38] Chr9:74347389 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1521G>C (p.Gln507His) | single nucleotide variant | not specified [RCV004433562] | Chr9:71732393 [GRCh38] Chr9:74347309 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.170G>A (p.Arg57Gln) | single nucleotide variant | not specified [RCV004433565] | Chr9:71750204 [GRCh38] Chr9:74365120 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.1744A>C (p.Ile582Leu) | single nucleotide variant | not specified [RCV004433567] | Chr9:71730734 [GRCh38] Chr9:74345650 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1858A>G (p.Asn620Asp) | single nucleotide variant | not specified [RCV004433569] | Chr9:71730169 [GRCh38] Chr9:74345085 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2188T>C (p.Phe730Leu) | single nucleotide variant | not specified [RCV004433573] | Chr9:71722506 [GRCh38] Chr9:74337422 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2725A>G (p.Ile909Val) | single nucleotide variant | not specified [RCV004433579] | Chr9:71712127 [GRCh38] Chr9:74327043 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2800G>T (p.Gly934Cys) | single nucleotide variant | not specified [RCV004433581] | Chr9:71709444 [GRCh38] Chr9:74324360 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2963T>C (p.Ile988Thr) | single nucleotide variant | not specified [RCV004433583] | Chr9:71709281 [GRCh38] Chr9:74324197 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3547C>T (p.Arg1183Trp) | single nucleotide variant | not specified [RCV004433596] | Chr9:71698035 [GRCh38] Chr9:74312951 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3620A>G (p.His1207Arg) | single nucleotide variant | not specified [RCV004433599] | Chr9:71694585 [GRCh38] Chr9:74309501 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3755C>T (p.Pro1252Leu) | single nucleotide variant | not specified [RCV004433603] | Chr9:71690188 [GRCh38] Chr9:74305104 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3904C>T (p.His1302Tyr) | single nucleotide variant | not specified [RCV004433607] | Chr9:71685794 [GRCh38] Chr9:74300710 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.4105C>T (p.Arg1369Cys) | single nucleotide variant | not specified [RCV004433608] | Chr9:71685244 [GRCh38] Chr9:74300160 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.803A>G (p.Asn268Ser) | single nucleotide variant | not specified [RCV004433616] | Chr9:71745249 [GRCh38] Chr9:74360165 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1238T>C (p.Val413Ala) | single nucleotide variant | not specified [RCV004433555] | Chr9:71734961 [GRCh38] Chr9:74349877 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1510G>A (p.Ala504Thr) | single nucleotide variant | not specified [RCV004433561] | Chr9:71732404 [GRCh38] Chr9:74347320 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.169C>T (p.Arg57Trp) | single nucleotide variant | not specified [RCV004433564] | Chr9:71750205 [GRCh38] Chr9:74365121 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3191A>G (p.Asn1064Ser) | single nucleotide variant | not specified [RCV004433588] | Chr9:71704598 [GRCh38] Chr9:74319514 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3329T>C (p.Leu1110Pro) | single nucleotide variant | not specified [RCV004433590] | Chr9:71700690 [GRCh38] Chr9:74315606 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3722G>A (p.Arg1241Gln) | single nucleotide variant | not specified [RCV004433602] | Chr9:71690221 [GRCh38] Chr9:74305137 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.65G>A (p.Arg22His) | single nucleotide variant | not specified [RCV004433612] | Chr9:71750309 [GRCh38] Chr9:74365225 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.752G>C (p.Gly251Ala) | single nucleotide variant | not specified [RCV004433613] | Chr9:71745300 [GRCh38] Chr9:74360216 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.113C>T (p.Pro38Leu) | single nucleotide variant | not specified [RCV004433553] | Chr9:71750261 [GRCh38] Chr9:74365177 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1427T>C (p.Ile476Thr) | single nucleotide variant | not specified [RCV004433559] | Chr9:71732487 [GRCh38] Chr9:74347403 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2175T>G (p.Phe725Leu) | single nucleotide variant | not specified [RCV004433572] | Chr9:71725584 [GRCh38] Chr9:74340500 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2200G>A (p.Gly734Ser) | single nucleotide variant | not specified [RCV004433574] | Chr9:71722494 [GRCh38] Chr9:74337410 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3211G>T (p.Val1071Phe) | single nucleotide variant | not specified [RCV004433589] | Chr9:71700808 [GRCh38] Chr9:74315724 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1286C>T (p.Pro429Leu) | single nucleotide variant | not specified [RCV004433556] | Chr9:71734913 [GRCh38] Chr9:74349829 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1540G>A (p.Asp514Asn) | single nucleotide variant | not specified [RCV004433563] | Chr9:71732374 [GRCh38] Chr9:74347290 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1841G>A (p.Arg614Lys) | single nucleotide variant | not specified [RCV004433568] | Chr9:71730186 [GRCh38] Chr9:74345102 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2209A>G (p.Thr737Ala) | single nucleotide variant | not specified [RCV004433575] | Chr9:71722485 [GRCh38] Chr9:74337401 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2993T>C (p.Val998Ala) | single nucleotide variant | not specified [RCV004433584] | Chr9:71704796 [GRCh38] Chr9:74319712 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3454G>C (p.Val1152Leu) | single nucleotide variant | not specified [RCV004433592] | Chr9:71698128 [GRCh38] Chr9:74313044 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3674G>A (p.Arg1225His) | single nucleotide variant | not specified [RCV004433600] | Chr9:71694531 [GRCh38] Chr9:74309447 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.602C>T (p.Thr201Ile) | single nucleotide variant | not specified [RCV004433610] | Chr9:71745450 [GRCh38] Chr9:74360366 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1226G>A (p.Arg409Gln) | single nucleotide variant | not specified [RCV004433554] | Chr9:71734973 [GRCh38] Chr9:74349889 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1880C>T (p.Pro627Leu) | single nucleotide variant | not specified [RCV004433570] | Chr9:71730147 [GRCh38] Chr9:74345063 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2594C>T (p.Thr865Met) | single nucleotide variant | not specified [RCV004433577] | Chr9:71712258 [GRCh38] Chr9:74327174 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2752G>A (p.Val918Met) | single nucleotide variant | not specified [RCV004433580] | Chr9:71712100 [GRCh38] Chr9:74327016 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3049T>A (p.Ser1017Thr) | single nucleotide variant | not specified [RCV004433585] | Chr9:71704740 [GRCh38] Chr9:74319656 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3483G>C (p.Lys1161Asn) | single nucleotide variant | not specified [RCV004433593] | Chr9:71698099 [GRCh38] Chr9:74313015 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3566C>G (p.Thr1189Ser) | single nucleotide variant | not specified [RCV004433597] | Chr9:71698016 [GRCh38] Chr9:74312932 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.445G>A (p.Val149Met) | single nucleotide variant | not specified [RCV004433609] | Chr9:71746228 [GRCh38] Chr9:74361144 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.791C>T (p.Ser264Phe) | single nucleotide variant | not specified [RCV004433615] | Chr9:71745261 [GRCh38] Chr9:74360177 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.194A>T (p.Glu65Val) | single nucleotide variant | not specified [RCV004433571] | Chr9:71750180 [GRCh38] Chr9:74365096 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2491T>C (p.Phe831Leu) | single nucleotide variant | not specified [RCV004433576] | Chr9:71715034 [GRCh38] Chr9:74329950 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1297A>G (p.Ile433Val) | single nucleotide variant | not specified [RCV004433557] | Chr9:71734902 [GRCh38] Chr9:74349818 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.1741T>G (p.Cys581Gly) | single nucleotide variant | not specified [RCV004433566] | Chr9:71730737 [GRCh38] Chr9:74345653 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3125A>G (p.Lys1042Arg) | single nucleotide variant | not specified [RCV004433587] | Chr9:71704664 [GRCh38] Chr9:74319580 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3346G>A (p.Glu1116Lys) | single nucleotide variant | not specified [RCV004433591] | Chr9:71700673 [GRCh38] Chr9:74315589 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.356G>A (p.Arg119His) | single nucleotide variant | not specified [RCV004433598] | Chr9:71746317 [GRCh38] Chr9:74361233 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.266C>T (p.Thr89Ile) | single nucleotide variant | not specified [RCV004433578] | Chr9:71750108 [GRCh38] Chr9:74365024 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.2825T>C (p.Met942Thr) | single nucleotide variant | not specified [RCV004433582] | Chr9:71709419 [GRCh38] Chr9:74324335 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3490A>G (p.Ser1164Gly) | single nucleotide variant | not specified [RCV004433594] | Chr9:71698092 [GRCh38] Chr9:74313008 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3683C>T (p.Pro1228Leu) | single nucleotide variant | not specified [RCV004433601] | Chr9:71694522 [GRCh38] Chr9:74309438 [GRCh37] Chr9:9q21.13 |
likely benign |
NM_013390.3(CEMIP2):c.3758G>A (p.Cys1253Tyr) | single nucleotide variant | not specified [RCV004433604] | Chr9:71690185 [GRCh38] Chr9:74305101 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.3872C>T (p.Thr1291Ile) | single nucleotide variant | not specified [RCV004433606] | Chr9:71685826 [GRCh38] Chr9:74300742 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.64C>A (p.Arg22Ser) | single nucleotide variant | not specified [RCV004433611] | Chr9:71750310 [GRCh38] Chr9:74365226 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.779A>G (p.Glu260Gly) | single nucleotide variant | not specified [RCV004433614] | Chr9:71745273 [GRCh38] Chr9:74360189 [GRCh37] Chr9:9q21.13 |
uncertain significance |
NM_013390.3(CEMIP2):c.844A>G (p.Ser282Gly) | single nucleotide variant | not specified [RCV004433617] | Chr9:71745208 [GRCh38] Chr9:74360124 [GRCh37] Chr9:9q21.13 |
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. |
WIAF-2208 |
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RH16236 |
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RH17266 |
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SHGC-77847 |
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SHGC-145323 |
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RH46242 |
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G20809 |
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SHGC-154793 |
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STS-N30818 |
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SHGC-34849 |
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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 | ||||||||||||||||||
Medium | 1389 | 1163 | 1167 | 475 | 1355 | 391 | 2175 | 381 | 1461 | 272 | 547 | 1429 | 97 | 1120 | 1017 | 6 | 1 | |
Low | 1050 | 1825 | 559 | 149 | 559 | 74 | 2181 | 1812 | 2268 | 146 | 913 | 182 | 78 | 1 | 84 | 1771 | 1 | |
Below cutoff | 3 | 37 | 4 | 5 | 1 | 2 |
RefSeq Transcripts | NG_053053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001135820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001349784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_013390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005251869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047423136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047423137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054362588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054362589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB037833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF137030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK303765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL161732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL671309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC044850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC140773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC146780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC171782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA418327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR990222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA865249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000377043 ⟹ ENSP00000366242 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000377044 ⟹ ENSP00000366243 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000377055 ⟹ ENSP00000366254 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000377057 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000377066 ⟹ ENSP00000366266 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000396272 ⟹ ENSP00000379569 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000474495 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000537329 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000538669 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000542935 ⟹ ENSP00000437750 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000543165 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000545719 ⟹ ENSP00000444571 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000546219 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001135820 ⟹ NP_001129292 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001349784 ⟹ NP_001336713 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_013390 ⟹ NP_037522 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005251869 ⟹ XP_005251926 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | XM_047423136 ⟹ XP_047279092 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047423137 ⟹ XP_047279093 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054362588 ⟹ XP_054218563 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054362589 ⟹ XP_054218564 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001129292 | (Get FASTA) | NCBI Sequence Viewer |
NP_001336713 | (Get FASTA) | NCBI Sequence Viewer | |
NP_037522 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005251926 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047279092 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047279093 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054218563 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054218564 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF21348 | (Get FASTA) | NCBI Sequence Viewer |
AAI40774 | (Get FASTA) | NCBI Sequence Viewer | |
AAI46781 | (Get FASTA) | NCBI Sequence Viewer | |
BAA92650 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11574 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51381 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62135 | (Get FASTA) | NCBI Sequence Viewer | |
BAG64731 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62517 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62518 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62519 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62520 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000366242.2 | ||
ENSP00000366243 | |||
ENSP00000366243.4 | |||
ENSP00000366254.1 | |||
ENSP00000366266 | |||
ENSP00000366266.5 | |||
ENSP00000379569.3 | |||
ENSP00000437750.1 | |||
ENSP00000444571.1 | |||
GenBank Protein | Q9UHN6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_037522 ⟸ NM_013390 |
- Peptide Label: | isoform a |
- UniProtKB: | Q8NBP6 (UniProtKB/Swiss-Prot), Q5T841 (UniProtKB/Swiss-Prot), Q5T840 (UniProtKB/Swiss-Prot), Q5T839 (UniProtKB/Swiss-Prot), Q5T838 (UniProtKB/Swiss-Prot), B2RTQ6 (UniProtKB/Swiss-Prot), A6H8W9 (UniProtKB/Swiss-Prot), Q9P2D5 (UniProtKB/Swiss-Prot), Q9UHN6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001129292 ⟸ NM_001135820 |
- Peptide Label: | isoform b |
- UniProtKB: | Q9UHN6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005251926 ⟸ XM_005251869 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NBP6 (UniProtKB/Swiss-Prot), Q5T841 (UniProtKB/Swiss-Prot), Q5T840 (UniProtKB/Swiss-Prot), Q5T839 (UniProtKB/Swiss-Prot), Q5T838 (UniProtKB/Swiss-Prot), B2RTQ6 (UniProtKB/Swiss-Prot), A6H8W9 (UniProtKB/Swiss-Prot), Q9P2D5 (UniProtKB/Swiss-Prot), Q9UHN6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001336713 ⟸ NM_001349784 |
- Peptide Label: | isoform c |
- Sequence: |
RefSeq Acc Id: | ENSP00000437750 ⟸ ENST00000542935 |
RefSeq Acc Id: | ENSP00000444571 ⟸ ENST00000545719 |
RefSeq Acc Id: | ENSP00000366243 ⟸ ENST00000377044 |
RefSeq Acc Id: | ENSP00000366242 ⟸ ENST00000377043 |
RefSeq Acc Id: | ENSP00000366254 ⟸ ENST00000377055 |
RefSeq Acc Id: | ENSP00000366266 ⟸ ENST00000377066 |
RefSeq Acc Id: | ENSP00000379569 ⟸ ENST00000396272 |
RefSeq Acc Id: | XP_047279092 ⟸ XM_047423136 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047279093 ⟸ XM_047423137 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054218563 ⟸ XM_054362588 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9UHN6 (UniProtKB/Swiss-Prot), Q8NBP6 (UniProtKB/Swiss-Prot), Q5T841 (UniProtKB/Swiss-Prot), Q5T840 (UniProtKB/Swiss-Prot), Q5T839 (UniProtKB/Swiss-Prot), Q5T838 (UniProtKB/Swiss-Prot), B2RTQ6 (UniProtKB/Swiss-Prot), A6H8W9 (UniProtKB/Swiss-Prot), Q9P2D5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054218564 ⟸ XM_054362589 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UHN6-F1-model_v2 | AlphaFold | Q9UHN6 | 1-1383 | view protein structure |
RGD ID: | 7215237 | ||||||||
Promoter ID: | EPDNEW_H13365 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM2_2 | ||||||||
Description: | transmembrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H13366 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7215239 | ||||||||
Promoter ID: | EPDNEW_H13366 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM2_1 | ||||||||
Description: | transmembrane protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H13365 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6808307 | ||||||||
Promoter ID: | HG_KWN:63641 | ||||||||
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: | ENST00000377044, NM_001135820, NM_013390, UC004AIJ.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11869 | AgrOrtholog |
COSMIC | CEMIP2 | COSMIC |
Ensembl Genes | ENSG00000135048 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000377043.2 | UniProtKB/TrEMBL |
ENST00000377044 | ENTREZGENE | |
ENST00000377044.9 | UniProtKB/Swiss-Prot | |
ENST00000377055.1 | UniProtKB/TrEMBL | |
ENST00000377066 | ENTREZGENE | |
ENST00000377066.9 | UniProtKB/Swiss-Prot | |
ENST00000396272.7 | UniProtKB/TrEMBL | |
ENST00000542935.5 | UniProtKB/TrEMBL | |
ENST00000545719.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000135048 | GTEx |
HGNC ID | HGNC:11869 | ENTREZGENE |
Human Proteome Map | CEMIP2 | Human Proteome Map |
InterPro | G8_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ILEI/PANDER_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pectin_lyase_fold/virulence | UniProtKB/Swiss-Prot | |
TMEM2_PANDER-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:23670 | UniProtKB/Swiss-Prot |
NCBI Gene | 23670 | ENTREZGENE |
OMIM | 605835 | OMIM |
PANTHER | CELL SURFACE HYALURONIDASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRANSMEMBRANE PROTEIN 2-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ILEI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PF10162 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA36570 | PharmGKB |
PROSITE | GG_LECTIN | UniProtKB/Swiss-Prot |
PS51484 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | SM01225 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF51126 | UniProtKB/Swiss-Prot |
UniProt | A6H8W9 | ENTREZGENE |
B2RTQ6 | ENTREZGENE | |
B4E1B9_HUMAN | UniProtKB/TrEMBL | |
CEIP2_HUMAN | UniProtKB/Swiss-Prot | |
F5GZC1_HUMAN | UniProtKB/TrEMBL | |
F5H6B2_HUMAN | UniProtKB/TrEMBL | |
H3BLX9_HUMAN | UniProtKB/TrEMBL | |
H3BLY0_HUMAN | UniProtKB/TrEMBL | |
Q5T838 | ENTREZGENE | |
Q5T839 | ENTREZGENE | |
Q5T840 | ENTREZGENE | |
Q5T841 | ENTREZGENE | |
Q8NBP6 | ENTREZGENE | |
Q9P2D5 | ENTREZGENE | |
Q9UHN6 | ENTREZGENE | |
UniProt Secondary | A6H8W9 | UniProtKB/Swiss-Prot |
B2RTQ6 | UniProtKB/Swiss-Prot | |
Q5T838 | UniProtKB/Swiss-Prot | |
Q5T839 | UniProtKB/Swiss-Prot | |
Q5T840 | UniProtKB/Swiss-Prot | |
Q5T841 | UniProtKB/Swiss-Prot | |
Q8NBP6 | UniProtKB/Swiss-Prot | |
Q9P2D5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-03-06 | CEMIP2 | cell migration inducing hyaluronidase 2 | TMEM2 | transmembrane protein 2 | Symbol and/or name change | 5135510 | APPROVED |