AutismKB 2.0

Annotation Detail for DIAPH1


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Basic Information Top
Gene Symbol:DIAPH1 ( DFNA1,DIA1,DRF1,FLJ25265,LFHL1,hDIA1 )
Gene Full Name: diaphanous homolog 1 (Drosophila)
Band: 5q31.3
Quick LinksEntrez ID:1729; OMIM: 602121; Uniprot ID:DIAP1_HUMAN; ENSEMBL ID: ENSG00000131504; HGNC ID: 2876
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body5 / 7076170
blastocyst7 / 62319112
fetus26 / 56401246
neonate1 / 3109732
infant1 / 2362042
juvenile3 / 5555653
adult150 / 193912177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma12 / 82823144
colorectal tumor10 / 11424687
esophageal tumor3 / 17290173
gastrointestinal tumor11 / 11936992
germ cell tumor8 / 26384530
glioma6 / 10688356
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia14 / 95842146
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia4 / 9725041
normal202 / 336030760
ovarian tumor7 / 7668291
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor10 / 12494980
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites6 / 40015149
bladder4 / 29757134
blood13 / 123478105
bone11 / 71655153
bone marrow2 / 4880140
brain39 / 110098935
cervix7 / 48171145
connective tissue18 / 149255120
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus3 / 20209148
eye9 / 21105442
heart3 / 8962633
intestine21 / 23447289
kidney18 / 21177784
larynx4 / 24145165
liver8 / 20774338
lung23 / 33697468
lymph1 / 4427022
lymph node28 / 91610305
mammary gland12 / 15327178
mouth6 / 6705289
muscle3 / 10771527
nerve2 / 15768126
ovary9 / 10205188
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta24 / 28082585
prostate5 / 18934526
salivary gland0 / 201550 
skin13 / 21057461
spleen2 / 5395237
stomach7 / 9661972
testis14 / 33044242
thymus9 / 81131110
thyroid9 / 47473189
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213514_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts87.1
Adipocyte27.6
AdrenalCortex36.75
Adrenalgland25.25
Amygdala28.05
Appendix30.95
AtrioventricularNode31.85
BDCA4+_DentriticCells72.8
Bonemarrow39.8
BronchialEpithelialCells28.8
CD105+_Endothelial29.55
CD14+_Monocytes76.9
CD19+_BCells(neg._sel.)37.85
CD33+_Myeloid150.1
CD34+48.7
CD4+_Tcells151.3
CD56+_NKCells220.85
CD71+_EarlyErythroid35.85
CD8+_Tcells112.75
CardiacMyocytes40
Caudatenucleus26.45
Cerebellum23.8
CerebellumPeduncles35.25
CiliaryGanglion28.25
CingulateCortex32.15
Colorectaladenocarcinoma52.1
DorsalRootGanglion33.15
FetalThyroid28.8
Fetalbrain26.8
Fetalliver25.6
Fetallung23.3
GlobusPallidus23.55
Heart45.55
Hypothalamus29.75
Kidney25.9
Leukemia_chronicMyelogenousK-56228.1
Leukemia_promyelocytic-HL-6026.25
Leukemialymphoblastic(MOLT-4)60.45
Liver47.55
Lung30.65
Lymphnode28.85
Lymphoma_burkitts(Daudi)42.15
Lymphoma_burkitts(Raji)43
MedullaOblongata24.9
OccipitalLobe25.15
OlfactoryBulb21.45
Ovary23.7
Pancreas23.8
PancreaticIslet31.6
ParietalLobe31.6
Pituitary34.2
Placenta32.9
Pons28.65
PrefrontalCortex29.9
Prostate28.35
Salivarygland24.5
SkeletalMuscle55.55
Skin32.5
SmoothMuscle31.95
Spinalcord30.75
SubthalamicNucleus27.2
SuperiorCervicalGanglion41.15
TemporalLobe26
Testis24
TestisGermCell21.8
TestisIntersitial24.15
TestisLeydigCell31
TestisSeminiferousTubule24.7
Thalamus30.2
Thymus24.1
Thyroid36.4
Tongue48.95
Tonsil28.65
Trachea24.5
TrigeminalGanglion32.8
Uterus21.3
UterusCorpus27.3
WholeBlood70.2
Wholebrain21.8
colon27.1
pineal_day32.96
pineal_night30.7
retina34.325
small_intestine26.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P213344
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.24 ± 0.71
Basal Forebrain6.53 ± 0.4
Basal Part of Pons6.18 ± 0.41
Cerebellar Cortex6.2 ± 0.44
Cerebellar Nuclei5.53 ± 0.57
Claustrum5.37 ± 0.68
Epithalamus6.46 ± 0.64
Frontal Lobe5.99 ± 0.52
Globus Pallidus5.01 ± 0.23
Hypothalamus6.58 ± 0.53
Insula6.23 ± 0.41
Limbic Lobe6.1 ± 0.65
Mesencephalon5.97 ± 0.6
Myelencephalon6.04 ± 0.67
Occipital Lobe6.5 ± 0.39
Parietal Lobe6.15 ± 0.62
Pontine Tegmentum6.04 ± 0.65
Striatum6.53 ± 0.61
Subthalamus6.1 ± 0.81
Temporal Lobe6.2 ± 0.44
Thalamus5.82 ± 0.54
White Matter3.92 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Diap1CBCerebellum5.85
6.65
Diap1CTXCerebral cortex9.74
7.07
Diap1HIPHippocampal region10.14
9.31
Diap1HPFHippocampal formation7.36
6.15
Diap1HYHypothalamus2.11
1.63
Diap1LSXLateral septal complex20.67
16.44
Diap1MBMidbrain6.52
5.74
Diap1MYMedulla8.37
9
Diap1OLFOlfactory bulb7.13
4.97
Diap1PPons7.4
7.81
Diap1PALPallidum4.14
3.36
Diap1RHPRetrohippocampal region3.13
2.1
Diap1sAMYStriatum-like amygdalar nuclei0.95
0.65
Diap1STRStriatum6.31
4.43
Diap1STRdStriatum dorsal region4.35
3.09
Diap1STRvStriatum ventral region9.2
5.51
Diap1THThalamus4.33
3.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DIAP1_HUMAN_0 0 0 0 AEPHFLSILQHLLLVR PRIDE
DIAP1_HUMAN_0 0 0 0 DMPLLSCLESLR PRIDE
DIAP1_HUMAN_0 0 0 0 EMVSQYLYTSK PRIDE
DIAP1_HUMAN_0 0 0 0 KLDSELTAR PRIDE
DIAP1_HUMAN_0 0 0 0 KLSVEEFFMDLHNFR PRIDE
DIAP1_HUMAN_0 0 0 0 KMESDFEQK PRIDE
DIAP1_HUMAN_0 0 0 0 LGLHQVLQDLR PRIDE
DIAP1_HUMAN_0 0 0 0 LIEECISQIVLHK PRIDE
DIAP1_HUMAN_0 0 0 0 LQDLQGEKDALHSEK PRIDE
DIAP1_HUMAN_0 0 0 0 NDYEARPQYYK PRIDE
DIAP1_HUMAN_0 0 0 0 SAMMYIQELR PRIDE
DIAP1_HUMAN_0 0 0 0 TAQNLSIFLGSFR PRIDE
DIAP1_HUMAN_0 0 0 0 VGCLQLINALITPAEELDFR PRIDE
DIAP1_HUMAN_0 0 0 0 VLEAMTER PRIDE
DIAP1_HUMAN_1 12 1 12 MEPPGGSLGPGR PRIDE
DIAP1_HUMAN_1047 18 1047 1064 DVQNFPAATDEKDKFVEK PRIDE
DIAP1_HUMAN_1092 11 1092 1102 ELGEYFLFDPK PRIDE
DIAP1_HUMAN_1103 15 1103 1117 KLSVEEFFMDLHNFR PRIDE
DIAP1_HUMAN_1104 14 1104 1117 LSVEEFFMDLHNFR PRIDE
DIAP1_HUMAN_1118 8 1118 1125 NMFLQAVK PRIDE
DIAP1_HUMAN_113 11 113 123 EMVSQYLYTSK PRIDE
DIAP1_HUMAN_1200 25 1200 1224 AGCAVTSLLASELTKDDAMAAVPAK PRIDE
DIAP1_HUMAN_1228 13 1228 1240 NSETFPTILEEAK PRIDE
DIAP1_HUMAN_1228 18 1228 1245 NSETFPTILEEAKELVGR PRIDE
DIAP1_HUMAN_134 10 134 143 SAMMYIQELR PRIDE
DIAP1_HUMAN_144 16 144 159 SGLRDMPLLSCLESLR PRIDE
DIAP1_HUMAN_148 12 148 159 DMPLLSCLESLR PRIDE
DIAP1_HUMAN_21 14 21 34 SPDELPSAGGDGGK PRIDE
DIAP1_HUMAN_223 14 223 236 TMLETEEGILLLVR PRIDE
DIAP1_HUMAN_224 14 224 237 TMLETEEGILLLVR PRIDE
DIAP1_HUMAN_237 15 237 251 AMDPAVPNMMIDAAK PRIDE
DIAP1_HUMAN_252 17 252 268 LLSALCILPQPEDMNER PRIDE
DIAP1_HUMAN_269 8 269 276 VLEAMTER PRIDE
DIAP1_HUMAN_278 8 278 285 AEMDEVER PRIDE
DIAP1_HUMAN_302 20 302 321 VGCLQLINALITPAEELDFR PRIDE
DIAP1_HUMAN_331 11 331 341 LGLHQVLQDLR PRIDE
DIAP1_HUMAN_375 18 375 392 MEMDDFNEVFQILLNTVK PRIDE
DIAP1_HUMAN_375 21 375 395 MEMDDFNEVFQILLNTVKDSK PRIDE
DIAP1_HUMAN_393 19 393 411 DSKAEPHFLSILQHLLLVR PRIDE
DIAP1_HUMAN_396 16 396 411 AEPHFLSILQHLLLVR PRIDE
DIAP1_HUMAN_412 11 412 422 NDYEARPQYYK PRIDE
DIAP1_HUMAN_423 13 423 435 LIEECISQIVLHK PRIDE
DIAP1_HUMAN_446 18 446 463 HLQIEIEGLIDQMIDKTK PRIDE
DIAP1_HUMAN_446 21 446 466 HLQIEIEGLIDQMIDKTKVEK PRIDE
DIAP1_HUMAN_503 15 503 517 LQDLQGEKDALHSEK PRIDE
DIAP1_HUMAN_765 14 765 778 LVAEDLSQDCFWTK PRIDE
DIAP1_HUMAN_779 14 779 792 VKEDRFENNELFAK PRIDE
DIAP1_HUMAN_831 13 831 843 TAQNLSIFLGSFR PRIDE
DIAP1_HUMAN_844 7 844 850 MPYQEIK PRIDE
DIAP1_HUMAN_873 9 873 881 QMPEPEQLK PRIDE
DIAP1_HUMAN_912 7 912 918 LNAILFK PRIDE
DIAP1_HUMAN_919 25 919 943 LQFSEQVENIKPEIVSVTAACEELR PRIDE
DIAP1_HUMAN_968 14 968 981 NAGAFGFNISFLCK PRIDE
DIAP1_HUMAN_992 30 992 1021 MTLLHFLAELCENDYPDVLKFPDELAHVEK PRIDE
PAp00000335 25 1216 1240 AGCAVTSLLASELTKDDAMAAVPAK Peptide Atlas

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


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