AutismKB 2.0

Evidence Details for TMEM194B


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Basic Information Top
Gene Symbol:TMEM194B ( - )
Gene Full Name: transmembrane protein 194B
Band: 2q32.2
Quick LinksEntrez ID:100131211; OMIM: NA; Uniprot ID:T194B_HUMAN; ENSEMBL ID: ENSG00000189362; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM194B|100131211|nucleotide
ATGGGGCCGCGCCAAGGGCGGTGGTGGCTGCTGCTCTGGCTGCCGCCCCTGGCCACACTGCCCGTGCGCGGGGAGGCGGCGGCGGCAGCGTTATCAGTTCGTAGG
TGTAAAGCTTTGAAGGAAAAAGATTTAATTAGAACGTCTGAGTCAGACTGTTACTGCTACAATCAAAATTCCCAAGTGGAGTGGAAATACATATGGTCAACTATG
CAGGTGAAAATTACCAGTCCAGGCCTGTTCAGAATTGTATATATCGCAGAAAGACATAATTGCCAATATCCAGAAAACATTCTATCTTTTATCAAATGTGTGATT
CATAACTTTTGGATACCAAAGGAATCTAACGAAATAACCATAATCATCAATCCATACAGGGAGACTGTGTGCTTCTCTGTGGAGCCTGTCAAGAAGATATTTAAC
TATATGATACATGTGAATCGAAACATCATGGATTTCAAACTCTTCCTTGTGTTTGTGGCAGGAGTTTTTCTTTTCTTTTATGCAAGGACCCTGAGTCAAAGCCCT
ACTTTCTATTACTCCTCGGGAACTGTGCTAGGTGTTCTAATGACATTAGTCTTTGTCTTGCTGTTGGTGAAAAGATTCATTCCGAAGTATAGCACCTTTTGGGCT
CTAATGGTTGGTTGTTGGTTTGCCTCAGTTTATATTGTATGCCAGTTGATGGAAGATCTGAAGTGGCTGTGGTATGAAAACAGGATATATGTATTAGGCTATGTC
TTGATAGTTGGATTTTTCAGCTTTGTTGTTTGTTACAAGCATGGGCCCCTTGCAGACGACAGGAGCAGAAGTCTTCTGATGTGGATGCTGCGACTCCTCTCCCTG
GTTCTGGTCTATGCTGGTGTGGCCGTGCCTCAGTTTGCCTATGCAGCCATAATCCTCCTCATGTCCTCCTGGAGTCTGCACTACCCACTGAGAGCATGCAGTTAT
ATGAGGTGGAAAATGGAGCAGTGGTTTACATCAAAAGAGCTGGTGGTGAAATATCTTACGGAAGACGAGTACAGGGAGCAAGCTGATGCTGAAACGAACAGTGCT
CTGGAGGAGCTACGCCGGGCCTGCCGAAAACCCGACTTTCCCTCATGGCTGGTCGTCTCCAGACTCCACACTCCTAGCAAATTTGCAGACTTTGTTCTTGGAGGA
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>TMEM194B|100131211|protein
MGPRQGRWWLLLWLPPLATLPVRGEAAAAALSVRRCKALKEKDLIRTSESDCYCYNQNSQVEWKYIWSTMQVKITSPGLFRIVYIAERHNCQYPENILSFIKCVI
HNFWIPKESNEITIIINPYRETVCFSVEPVKKIFNYMIHVNRNIMDFKLFLVFVAGVFLFFYARTLSQSPTFYYSSGTVLGVLMTLVFVLLLVKRFIPKYSTFWA
LMVGCWFASVYIVCQLMEDLKWLWYENRIYVLGYVLIVGFFSFVVCYKHGPLADDRSRSLLMWMLRLLSLVLVYAGVAVPQFAYAAIILLMSSWSLHYPLRACSY
MRWKMEQWFTSKELVVKYLTEDEYREQADAETNSALEELRRACRKPDFPSWLVVSRLHTPSKFADFVLGGSHLSPEEISLHEEQYGLGGAFLEEQLFNPSTA

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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Ma, 2009_1 Discovery Illumina's Human 1M v1 Beadchip 438 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018